Canonical Allele Identifier: CA1628469689

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627029C= , CM000668.2:g.51627029C=	GRCh38
NC_000006.11:g.51491827C= , CM000668.1:g.51491827C=	GRCh37
NC_000006.10:g.51599786C=	NCBI36
NG_008753.1:g.465597G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11753G= MANE Select	ENSP00000360158.3:p.Gly3918=
ENST00000371117.7:c.11753G=	ENSP00000360158.3:p.Gly3918=
NM_138694.3:c.11753G=	NP_619639.3:p.Gly3918=
XM_011514679.1:c.11753G=	XP_011512981.1:p.Gly3918=
XM_011514680.1:c.11753G=	XP_011512982.1:p.Gly3918=
XM_011514681.1:c.11624G=	XP_011512983.1:p.Gly3875=
XM_011514682.1:c.11615G=	XP_011512984.1:p.Gly3872=
XM_011514683.1:c.11111G=	XP_011512985.1:p.Gly3704=
XM_011514684.1:c.11042G=	XP_011512986.1:p.Gly3681=
XM_011514690.1:c.5828G=	XP_011512992.1:p.Gly1943=
XM_011514691.1:c.5828G=	XP_011512993.1:p.Gly1943=
XM_011514680.3:c.11753G=	XP_011512982.1:p.Gly3918=
XM_011514682.3:c.11615G=	XP_011512984.1:p.Gly3872=
XM_011514683.3:c.11111G=	XP_011512985.1:p.Gly3704=
XM_011514684.3:c.11042G=	XP_011512986.1:p.Gly3681=
XM_011514690.3:c.5828G=	XP_011512992.1:p.Gly1943=
XM_011514691.3:c.5828G=	XP_011512993.1:p.Gly1943=
XM_017010944.2:c.11753G=	XP_016866433.1:p.Gly3918=
XM_017010945.2:c.11678G=	XP_016866434.1:p.Gly3893=
XM_017010946.2:c.11558G=	XP_016866435.1:p.Gly3853=
XM_017010947.2:c.11489G=	XP_016866436.1:p.Gly3830=
XM_017010948.2:c.11042G=	XP_016866437.1:p.Gly3681=
XM_017010949.2:c.9893G=	XP_016866438.1:p.Gly3298=
NM_138694.4:c.11753G= MANE Select	NP_619639.3:p.Gly3918=