Canonical Allele Identifier: CA942735973

Gene: PHLDB1

Linked Data

• dbSNP Id: rs1941393358
• gnomAD v3: 11-118615284-C-T
• gnomAD v4: 11-118615284-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118615284C>T , CM000673.2:g.118615284C>T	GRCh38
NC_000011.9:g.118485999C>T , CM000673.1:g.118485999C>T	GRCh37
NC_000011.8:g.117991209C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000600882.6:c.184+602C>T MANE Select	ENSP00000469820.1:n.184+602C>T
ENST00000356063.9:c.184+602C>T	ENSP00000348359.5:n.184+602C>T
ENST00000361417.6:c.184+602C>T	ENSP00000354498.2:n.184+602C>T
ENST00000528594.5:c.184+602C>T	ENSP00000435520.1:n.184+602C>T
ENST00000530708.4:c.184+602C>T	ENSP00000481393.1:n.184+602C>T
ENST00000530994.5:c.184+602C>T	ENSP00000431508.1:n.184+602C>T
ENST00000532639.3:c.184+602C>T	ENSP00000478254.1:n.184+602C>T
ENST00000600882.5:c.184+602C>T	ENSP00000469820.1:n.184+602C>T
ENST00000621027.4:n.272+602C>T
NM_001144758.2:c.184+602C>T	NP_001138230.1:n.184+602C>T
NM_001144759.2:c.184+602C>T	NP_001138231.1:n.184+602C>T
NM_015157.3:c.184+602C>T	NP_055972.1:n.184+602C>T
XM_005271468.2:c.322+602C>T	XP_005271525.1:n.322+602C>T
XM_005271469.2:c.322+602C>T	XP_005271526.1:n.322+602C>T
XM_005271470.2:c.322+602C>T	XP_005271527.1:n.322+602C>T
XM_005271471.2:c.322+602C>T	XP_005271528.1:n.322+602C>T
XM_005271472.2:c.322+602C>T	XP_005271529.1:n.322+602C>T
XM_005271473.2:c.322+602C>T	XP_005271530.1:n.322+602C>T
XM_005271474.3:c.322+602C>T	XP_005271531.1:n.322+602C>T
XM_005271475.2:c.322+602C>T	XP_005271532.1:n.322+602C>T
XM_005277680.2:c.322+602C>T	XP_005277737.1:n.322+602C>T
XM_006718796.2:c.184+602C>T	XP_006718859.1:n.184+602C>T
XM_006718797.2:c.322+602C>T	XP_006718860.1:n.322+602C>T
XM_006718798.2:c.322+602C>T	XP_006718861.1:n.322+602C>T
XM_006718799.2:c.322+602C>T	XP_006718862.1:n.322+602C>T
XM_006718800.2:c.322+602C>T	XP_006718863.1:n.322+602C>T
XM_006718801.2:c.322+602C>T	XP_006718864.1:n.322+602C>T
XM_006718802.2:c.322+602C>T	XP_006718865.1:n.322+602C>T
XM_006718803.2:c.322+602C>T	XP_006718866.1:n.322+602C>T
XM_006718804.2:c.322+602C>T	XP_006718867.1:n.322+602C>T
XM_011542703.1:c.322+602C>T	XP_011541005.1:n.322+602C>T
XM_011542704.1:c.322+602C>T	XP_011541006.1:n.322+602C>T
XM_011542705.1:c.322+602C>T	XP_011541007.1:n.322+602C>T
XM_011542706.1:c.322+602C>T	XP_011541008.1:n.322+602C>T
XM_011542707.1:c.322+602C>T	XP_011541009.1:n.322+602C>T
XM_011542708.1:c.184+602C>T	XP_011541010.1:n.184+602C>T
XM_011542709.1:c.184+602C>T	XP_011541011.1:n.184+602C>T
XM_011542710.1:c.322+602C>T	XP_011541012.1:n.322+602C>T
XM_011542714.1:c.322+602C>T	XP_011541016.1:n.322+602C>T
XR_947813.1:n.331+602C>T
XR_947814.1:n.331+602C>T
XM_005271468.3:c.322+602C>T	XP_005271525.1:n.322+602C>T
XM_005271469.3:c.322+602C>T	XP_005271526.1:n.322+602C>T
XM_005271470.3:c.322+602C>T	XP_005271527.1:n.322+602C>T
XM_005271471.3:c.322+602C>T	XP_005271528.1:n.322+602C>T
XM_005271472.3:c.322+602C>T	XP_005271529.1:n.322+602C>T
XM_005271473.3:c.322+602C>T	XP_005271530.1:n.322+602C>T
XM_005271474.5:c.250+602C>T	XP_005271531.2:n.250+602C>T
XM_005271475.3:c.322+602C>T	XP_005271532.1:n.322+602C>T
XM_005277680.3:c.322+602C>T	XP_005277737.1:n.322+602C>T
XM_006718796.4:c.184+602C>T	XP_006718859.1:n.184+602C>T
XM_006718797.3:c.322+602C>T	XP_006718860.1:n.322+602C>T
XM_006718798.3:c.322+602C>T	XP_006718861.1:n.322+602C>T
XM_006718799.3:c.322+602C>T	XP_006718862.1:n.322+602C>T
XM_006718800.3:c.322+602C>T	XP_006718863.1:n.322+602C>T
XM_006718801.3:c.322+602C>T	XP_006718864.1:n.322+602C>T
XM_006718802.3:c.322+602C>T	XP_006718865.1:n.322+602C>T
XM_006718803.3:c.322+602C>T	XP_006718866.1:n.322+602C>T
XM_011542703.2:c.322+602C>T	XP_011541005.1:n.322+602C>T
XM_011542704.2:c.322+602C>T	XP_011541006.1:n.322+602C>T
XM_011542705.2:c.322+602C>T	XP_011541007.1:n.322+602C>T
XM_011542706.2:c.322+602C>T	XP_011541008.1:n.322+602C>T
XM_011542707.2:c.322+602C>T	XP_011541009.1:n.322+602C>T
XM_011542708.3:c.184+602C>T	XP_011541010.1:n.184+602C>T
XM_011542709.2:c.184+602C>T	XP_011541011.1:n.184+602C>T
XM_011542710.2:c.322+602C>T	XP_011541012.1:n.322+602C>T
XM_011542714.2:c.322+602C>T	XP_011541016.1:n.322+602C>T
XM_017017407.1:c.322+602C>T	XP_016872896.1:n.322+602C>T
XM_017017408.1:c.322+602C>T	XP_016872897.1:n.322+602C>T
XM_017017409.1:c.322+602C>T	XP_016872898.1:n.322+602C>T
XM_017017410.1:c.322+602C>T	XP_016872899.1:n.322+602C>T
XM_017017411.1:c.322+602C>T	XP_016872900.1:n.322+602C>T
XR_001747797.1:n.1083+602C>T
XR_001747798.1:n.1083+602C>T
XR_001747799.1:n.1083+602C>T
XR_947813.2:n.1083+602C>T
NM_001144758.3:c.184+602C>T MANE Select	NP_001138230.1:n.184+602C>T
NM_001144759.3:c.184+602C>T	NP_001138231.1:n.184+602C>T
NM_015157.4:c.184+602C>T	NP_055972.1:n.184+602C>T