Canonical Allele Identifier: CA364418974

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491902T>A (hg19) ; chr6:g.51627104T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627104T>A , CM000668.2:g.51627104T>A	GRCh38
NC_000006.11:g.51491902T>A , CM000668.1:g.51491902T>A	GRCh37
NC_000006.10:g.51599861T>A	NCBI36
NG_008753.1:g.465522A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11678A>T MANE Select	ENSP00000360158.3:p.Glu3893Val
ENST00000371117.7:c.11678A>T	ENSP00000360158.3:p.Glu3893Val
NM_138694.3:c.11678A>T	NP_619639.3:p.Glu3893Val
XM_011514679.1:c.11678A>T	XP_011512981.1:p.Glu3893Val
XM_011514680.1:c.11678A>T	XP_011512982.1:p.Glu3893Val
XM_011514681.1:c.11549A>T	XP_011512983.1:p.Glu3850Val
XM_011514682.1:c.11540A>T	XP_011512984.1:p.Glu3847Val
XM_011514683.1:c.11036A>T	XP_011512985.1:p.Glu3679Val
XM_011514684.1:c.10967A>T	XP_011512986.1:p.Glu3656Val
XM_011514690.1:c.5753A>T	XP_011512992.1:p.Glu1918Val
XM_011514691.1:c.5753A>T	XP_011512993.1:p.Glu1918Val
XM_011514680.3:c.11678A>T	XP_011512982.1:p.Glu3893Val
XM_011514682.3:c.11540A>T	XP_011512984.1:p.Glu3847Val
XM_011514683.3:c.11036A>T	XP_011512985.1:p.Glu3679Val
XM_011514684.3:c.10967A>T	XP_011512986.1:p.Glu3656Val
XM_011514690.3:c.5753A>T	XP_011512992.1:p.Glu1918Val
XM_011514691.3:c.5753A>T	XP_011512993.1:p.Glu1918Val
XM_017010944.2:c.11678A>T	XP_016866433.1:p.Glu3893Val
XM_017010945.2:c.11603A>T	XP_016866434.1:p.Glu3868Val
XM_017010946.2:c.11483A>T	XP_016866435.1:p.Glu3828Val
XM_017010947.2:c.11414A>T	XP_016866436.1:p.Glu3805Val
XM_017010948.2:c.10967A>T	XP_016866437.1:p.Glu3656Val
XM_017010949.2:c.9818A>T	XP_016866438.1:p.Glu3273Val
NM_138694.4:c.11678A>T MANE Select	NP_619639.3:p.Glu3893Val