Canonical Allele Identifier: CA1628469831

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627068A= , CM000668.2:g.51627068A=	GRCh38
NC_000006.11:g.51491866A= , CM000668.1:g.51491866A=	GRCh37
NC_000006.10:g.51599825A=	NCBI36
NG_008753.1:g.465558T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11714T= MANE Select	ENSP00000360158.3:p.Ile3905=
ENST00000371117.7:c.11714T=	ENSP00000360158.3:p.Ile3905=
NM_138694.3:c.11714T=	NP_619639.3:p.Ile3905=
XM_011514679.1:c.11714T=	XP_011512981.1:p.Ile3905=
XM_011514680.1:c.11714T=	XP_011512982.1:p.Ile3905=
XM_011514681.1:c.11585T=	XP_011512983.1:p.Ile3862=
XM_011514682.1:c.11576T=	XP_011512984.1:p.Ile3859=
XM_011514683.1:c.11072T=	XP_011512985.1:p.Ile3691=
XM_011514684.1:c.11003T=	XP_011512986.1:p.Ile3668=
XM_011514690.1:c.5789T=	XP_011512992.1:p.Ile1930=
XM_011514691.1:c.5789T=	XP_011512993.1:p.Ile1930=
XM_011514680.3:c.11714T=	XP_011512982.1:p.Ile3905=
XM_011514682.3:c.11576T=	XP_011512984.1:p.Ile3859=
XM_011514683.3:c.11072T=	XP_011512985.1:p.Ile3691=
XM_011514684.3:c.11003T=	XP_011512986.1:p.Ile3668=
XM_011514690.3:c.5789T=	XP_011512992.1:p.Ile1930=
XM_011514691.3:c.5789T=	XP_011512993.1:p.Ile1930=
XM_017010944.2:c.11714T=	XP_016866433.1:p.Ile3905=
XM_017010945.2:c.11639T=	XP_016866434.1:p.Ile3880=
XM_017010946.2:c.11519T=	XP_016866435.1:p.Ile3840=
XM_017010947.2:c.11450T=	XP_016866436.1:p.Ile3817=
XM_017010948.2:c.11003T=	XP_016866437.1:p.Ile3668=
XM_017010949.2:c.9854T=	XP_016866438.1:p.Ile3285=
NM_138694.4:c.11714T= MANE Select	NP_619639.3:p.Ile3905=