Canonical Allele Identifier: CA1628469800

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627059T= , CM000668.2:g.51627059T=	GRCh38
NC_000006.11:g.51491857T= , CM000668.1:g.51491857T=	GRCh37
NC_000006.10:g.51599816T=	NCBI36
NG_008753.1:g.465567A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11723A= MANE Select	ENSP00000360158.3:p.His3908=
ENST00000371117.7:c.11723A=	ENSP00000360158.3:p.His3908=
NM_138694.3:c.11723A=	NP_619639.3:p.His3908=
XM_011514679.1:c.11723A=	XP_011512981.1:p.His3908=
XM_011514680.1:c.11723A=	XP_011512982.1:p.His3908=
XM_011514681.1:c.11594A=	XP_011512983.1:p.His3865=
XM_011514682.1:c.11585A=	XP_011512984.1:p.His3862=
XM_011514683.1:c.11081A=	XP_011512985.1:p.His3694=
XM_011514684.1:c.11012A=	XP_011512986.1:p.His3671=
XM_011514690.1:c.5798A=	XP_011512992.1:p.His1933=
XM_011514691.1:c.5798A=	XP_011512993.1:p.His1933=
XM_011514680.3:c.11723A=	XP_011512982.1:p.His3908=
XM_011514682.3:c.11585A=	XP_011512984.1:p.His3862=
XM_011514683.3:c.11081A=	XP_011512985.1:p.His3694=
XM_011514684.3:c.11012A=	XP_011512986.1:p.His3671=
XM_011514690.3:c.5798A=	XP_011512992.1:p.His1933=
XM_011514691.3:c.5798A=	XP_011512993.1:p.His1933=
XM_017010944.2:c.11723A=	XP_016866433.1:p.His3908=
XM_017010945.2:c.11648A=	XP_016866434.1:p.His3883=
XM_017010946.2:c.11528A=	XP_016866435.1:p.His3843=
XM_017010947.2:c.11459A=	XP_016866436.1:p.His3820=
XM_017010948.2:c.11012A=	XP_016866437.1:p.His3671=
XM_017010949.2:c.9863A=	XP_016866438.1:p.His3288=
NM_138694.4:c.11723A= MANE Select	NP_619639.3:p.His3908=