Canonical Allele Identifier: CA1628498326

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51744510A= , CM000668.2:g.51744510A=	GRCh38
NC_000006.11:g.51609308A= , CM000668.1:g.51609308A=	GRCh37
NC_000006.10:g.51717267A=	NCBI36
NG_008753.1:g.348116T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10031T= MANE Select	ENSP00000360158.3:p.Leu3344=
ENST00000340994.4:c.10031T=	ENSP00000341097.4:p.Leu3344=
ENST00000371117.7:c.10031T=	ENSP00000360158.3:p.Leu3344=
NM_138694.3:c.10031T=	NP_619639.3:p.Leu3344=
NM_170724.2:c.10031T=	NP_733842.2:p.Leu3344=
XM_011514679.1:c.10031T=	XP_011512981.1:p.Leu3344=
XM_011514680.1:c.10031T=	XP_011512982.1:p.Leu3344=
XM_011514681.1:c.9902T=	XP_011512983.1:p.Leu3301=
XM_011514682.1:c.9893T=	XP_011512984.1:p.Leu3298=
XM_011514683.1:c.9389T=	XP_011512985.1:p.Leu3130=
XM_011514684.1:c.9320T=	XP_011512986.1:p.Leu3107=
XM_011514685.1:c.10031T=	XP_011512987.1:p.Leu3344=
XM_011514686.1:c.10031T=	XP_011512988.1:p.Leu3344=
XM_011514687.1:c.10031T=	XP_011512989.1:p.Leu3344=
XM_011514690.1:c.4106T=	XP_011512992.1:p.Leu1369=
XM_011514691.1:c.4106T=	XP_011512993.1:p.Leu1369=
XM_011514680.3:c.10031T=	XP_011512982.1:p.Leu3344=
XM_011514682.3:c.9893T=	XP_011512984.1:p.Leu3298=
XM_011514683.3:c.9389T=	XP_011512985.1:p.Leu3130=
XM_011514684.3:c.9320T=	XP_011512986.1:p.Leu3107=
XM_011514686.2:c.10031T=	XP_011512988.1:p.Leu3344=
XM_011514690.3:c.4106T=	XP_011512992.1:p.Leu1369=
XM_011514691.3:c.4106T=	XP_011512993.1:p.Leu1369=
XM_017010944.2:c.10031T=	XP_016866433.1:p.Leu3344=
XM_017010945.2:c.9956T=	XP_016866434.1:p.Leu3319=
XM_017010946.2:c.9836T=	XP_016866435.1:p.Leu3279=
XM_017010947.2:c.9767T=	XP_016866436.1:p.Leu3256=
XM_017010948.2:c.9320T=	XP_016866437.1:p.Leu3107=
XM_017010949.2:c.8171T=	XP_016866438.1:p.Leu2724=
XM_017010950.1:c.10031T=	XP_016866439.1:p.Leu3344=
XR_001743469.1:n.10307T=
NM_138694.4:c.10031T= MANE Select	NP_619639.3:p.Leu3344=
NM_170724.3:c.10031T=	NP_733842.2:p.Leu3344=