Canonical Allele Identifier: CA1628529780

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51791269A= , CM000668.2:g.51791269A=	GRCh38
NC_000006.11:g.51656067A= , CM000668.1:g.51656067A=	GRCh37
NC_000006.10:g.51764026A=	NCBI36
NG_008753.1:g.301357T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.8407T= MANE Select	ENSP00000360158.3:p.Cys2803=
ENST00000340994.4:c.8407T=	ENSP00000341097.4:p.Cys2803=
ENST00000371117.7:c.8407T=	ENSP00000360158.3:p.Cys2803=
NM_138694.3:c.8407T=	NP_619639.3:p.Cys2803=
NM_170724.2:c.8407T=	NP_733842.2:p.Cys2803=
XM_011514679.1:c.8407T=	XP_011512981.1:p.Cys2803=
XM_011514680.1:c.8407T=	XP_011512982.1:p.Cys2803=
XM_011514681.1:c.8278T=	XP_011512983.1:p.Cys2760=
XM_011514682.1:c.8303-15348T=	XP_011512984.1:n.8303-15348T=
XM_011514683.1:c.7765T=	XP_011512985.1:p.Cys2589=
XM_011514684.1:c.7696T=	XP_011512986.1:p.Cys2566=
XM_011514685.1:c.8407T=	XP_011512987.1:p.Cys2803=
XM_011514686.1:c.8407T=	XP_011512988.1:p.Cys2803=
XM_011514687.1:c.8407T=	XP_011512989.1:p.Cys2803=
XM_011514688.1:c.8407T=	XP_011512990.1:p.Cys2803=
XM_011514690.1:c.2482T=	XP_011512992.1:p.Cys828=
XM_011514691.1:c.2482T=	XP_011512993.1:p.Cys828=
XM_011514680.3:c.8407T=	XP_011512982.1:p.Cys2803=
XM_011514682.3:c.8303-15348T=	XP_011512984.1:n.8303-15348T=
XM_011514683.3:c.7765T=	XP_011512985.1:p.Cys2589=
XM_011514684.3:c.7696T=	XP_011512986.1:p.Cys2566=
XM_011514686.2:c.8407T=	XP_011512988.1:p.Cys2803=
XM_011514688.2:c.8407T=	XP_011512990.1:p.Cys2803=
XM_011514690.3:c.2482T=	XP_011512992.1:p.Cys828=
XM_011514691.3:c.2482T=	XP_011512993.1:p.Cys828=
XM_017010944.2:c.8407T=	XP_016866433.1:p.Cys2803=
XM_017010945.2:c.8332T=	XP_016866434.1:p.Cys2778=
XM_017010946.2:c.8212T=	XP_016866435.1:p.Cys2738=
XM_017010947.2:c.8143T=	XP_016866436.1:p.Cys2715=
XM_017010948.2:c.7696T=	XP_016866437.1:p.Cys2566=
XM_017010949.2:c.6547T=	XP_016866438.1:p.Cys2183=
XM_017010950.1:c.8407T=	XP_016866439.1:p.Cys2803=
XM_017010951.1:c.8407T=	XP_016866440.1:p.Cys2803=
XR_001743469.1:n.8683T=
NM_138694.4:c.8407T= MANE Select	NP_619639.3:p.Cys2803=
NM_170724.3:c.8407T=	NP_733842.2:p.Cys2803=