Canonical Allele Identifier: CA1628469824

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627066G= , CM000668.2:g.51627066G=	GRCh38
NC_000006.11:g.51491864G= , CM000668.1:g.51491864G=	GRCh37
NC_000006.10:g.51599823G=	NCBI36
NG_008753.1:g.465560C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11716C= MANE Select	ENSP00000360158.3:p.His3906=
ENST00000371117.7:c.11716C=	ENSP00000360158.3:p.His3906=
NM_138694.3:c.11716C=	NP_619639.3:p.His3906=
XM_011514679.1:c.11716C=	XP_011512981.1:p.His3906=
XM_011514680.1:c.11716C=	XP_011512982.1:p.His3906=
XM_011514681.1:c.11587C=	XP_011512983.1:p.His3863=
XM_011514682.1:c.11578C=	XP_011512984.1:p.His3860=
XM_011514683.1:c.11074C=	XP_011512985.1:p.His3692=
XM_011514684.1:c.11005C=	XP_011512986.1:p.His3669=
XM_011514690.1:c.5791C=	XP_011512992.1:p.His1931=
XM_011514691.1:c.5791C=	XP_011512993.1:p.His1931=
XM_011514680.3:c.11716C=	XP_011512982.1:p.His3906=
XM_011514682.3:c.11578C=	XP_011512984.1:p.His3860=
XM_011514683.3:c.11074C=	XP_011512985.1:p.His3692=
XM_011514684.3:c.11005C=	XP_011512986.1:p.His3669=
XM_011514690.3:c.5791C=	XP_011512992.1:p.His1931=
XM_011514691.3:c.5791C=	XP_011512993.1:p.His1931=
XM_017010944.2:c.11716C=	XP_016866433.1:p.His3906=
XM_017010945.2:c.11641C=	XP_016866434.1:p.His3881=
XM_017010946.2:c.11521C=	XP_016866435.1:p.His3841=
XM_017010947.2:c.11452C=	XP_016866436.1:p.His3818=
XM_017010948.2:c.11005C=	XP_016866437.1:p.His3669=
XM_017010949.2:c.9856C=	XP_016866438.1:p.His3286=
NM_138694.4:c.11716C= MANE Select	NP_619639.3:p.His3906=