Canonical Allele Identifier: CA3581416

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs765775892
• ExAC: 5:176831676 A / T
• gnomAD v2: 5-176831676-A-T
• gnomAD v3: 5-177404675-A-T
• gnomAD v4: 5-177404675-A-T
• MyVariant Identifiers: chr5:g.176831676A>T (hg19) ; chr5:g.176831676_176831677delinsTG (hg19) ; chr5:g.177404675A>T (hg38) ; chr5:g.177404675_177404676delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404675A>T , CM000667.2:g.177404675A>T	GRCh38
NC_000005.9:g.176831676A>T , CM000667.1:g.176831676A>T	GRCh37
NC_000005.8:g.176764282A>T	NCBI36
NG_007568.1:g.9902T>A , LRG_145:g.9902T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*301-11T>A (F12)	ENSP00000512476.1:n.*301-11T>A
ENST00000696193.1:c.*994T>A (F12)	ENSP00000512477.1:n.*994T>A
ENST00000696194.1:c.*225-11T>A (F12)	ENSP00000512478.1:n.*225-11T>A
ENST00000696195.1:n.3427T>A (F12)
ENST00000696200.1:n.738-11T>A (F12)
ENST00000696201.1:c.635-11T>A (F12)	ENSP00000512482.1:n.635-11T>A
ENST00000253496.4:c.635-11T>A (F12) MANE Select	ENSP00000253496.3:n.635-11T>A
ENST00000253496.3:c.635-11T>A (F12)	ENSP00000253496.3:n.635-11T>A
ENST00000502598.5:c.-45+1149A>T (GRK6)	ENSP00000422873.1:n.-45+1149A>T
ENST00000503736.1:n.172+135T>A (F12)
ENST00000506296.5:c.-45+118A>T (GRK6)	ENSP00000421055.1:n.-45+118A>T
NM_000505.3:c.635-11T>A , LRG_145t1:c.635-11T>A (F12)	NP_000496.2:n.635-11T>A
XM_011534461.1:c.635-11T>A (F12)	XP_011532763.1:n.635-11T>A
XM_011534462.1:c.299-11T>A (F12)	XP_011532764.1:n.299-11T>A
XM_011534462.2:c.299-11T>A (F12)	XP_011532764.1:n.299-11T>A
XM_017009773.2:c.1417-7089A>T (SLC34A1)	XP_016865262.1:n.1417-7089A>T
NM_000505.4:c.635-11T>A (F12) MANE Select	NP_000496.2:n.635-11T>A