Canonical Allele Identifier: CA1628469835

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627070A= , CM000668.2:g.51627070A=	GRCh38
NC_000006.11:g.51491868A= , CM000668.1:g.51491868A=	GRCh37
NC_000006.10:g.51599827A=	NCBI36
NG_008753.1:g.465556T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11712T= MANE Select	ENSP00000360158.3:p.Asn3904=
ENST00000371117.7:c.11712T=	ENSP00000360158.3:p.Asn3904=
NM_138694.3:c.11712T=	NP_619639.3:p.Asn3904=
XM_011514679.1:c.11712T=	XP_011512981.1:p.Asn3904=
XM_011514680.1:c.11712T=	XP_011512982.1:p.Asn3904=
XM_011514681.1:c.11583T=	XP_011512983.1:p.Asn3861=
XM_011514682.1:c.11574T=	XP_011512984.1:p.Asn3858=
XM_011514683.1:c.11070T=	XP_011512985.1:p.Asn3690=
XM_011514684.1:c.11001T=	XP_011512986.1:p.Asn3667=
XM_011514690.1:c.5787T=	XP_011512992.1:p.Asn1929=
XM_011514691.1:c.5787T=	XP_011512993.1:p.Asn1929=
XM_011514680.3:c.11712T=	XP_011512982.1:p.Asn3904=
XM_011514682.3:c.11574T=	XP_011512984.1:p.Asn3858=
XM_011514683.3:c.11070T=	XP_011512985.1:p.Asn3690=
XM_011514684.3:c.11001T=	XP_011512986.1:p.Asn3667=
XM_011514690.3:c.5787T=	XP_011512992.1:p.Asn1929=
XM_011514691.3:c.5787T=	XP_011512993.1:p.Asn1929=
XM_017010944.2:c.11712T=	XP_016866433.1:p.Asn3904=
XM_017010945.2:c.11637T=	XP_016866434.1:p.Asn3879=
XM_017010946.2:c.11517T=	XP_016866435.1:p.Asn3839=
XM_017010947.2:c.11448T=	XP_016866436.1:p.Asn3816=
XM_017010948.2:c.11001T=	XP_016866437.1:p.Asn3667=
XM_017010949.2:c.9852T=	XP_016866438.1:p.Asn3284=
NM_138694.4:c.11712T= MANE Select	NP_619639.3:p.Asn3904=