Canonical Allele Identifier: CA1628469942

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627102C= , CM000668.2:g.51627102C=	GRCh38
NC_000006.11:g.51491900C= , CM000668.1:g.51491900C=	GRCh37
NC_000006.10:g.51599859C=	NCBI36
NG_008753.1:g.465524G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11680G= MANE Select	ENSP00000360158.3:p.Glu3894=
ENST00000371117.7:c.11680G=	ENSP00000360158.3:p.Glu3894=
NM_138694.3:c.11680G=	NP_619639.3:p.Glu3894=
XM_011514679.1:c.11680G=	XP_011512981.1:p.Glu3894=
XM_011514680.1:c.11680G=	XP_011512982.1:p.Glu3894=
XM_011514681.1:c.11551G=	XP_011512983.1:p.Glu3851=
XM_011514682.1:c.11542G=	XP_011512984.1:p.Glu3848=
XM_011514683.1:c.11038G=	XP_011512985.1:p.Glu3680=
XM_011514684.1:c.10969G=	XP_011512986.1:p.Glu3657=
XM_011514690.1:c.5755G=	XP_011512992.1:p.Glu1919=
XM_011514691.1:c.5755G=	XP_011512993.1:p.Glu1919=
XM_011514680.3:c.11680G=	XP_011512982.1:p.Glu3894=
XM_011514682.3:c.11542G=	XP_011512984.1:p.Glu3848=
XM_011514683.3:c.11038G=	XP_011512985.1:p.Glu3680=
XM_011514684.3:c.10969G=	XP_011512986.1:p.Glu3657=
XM_011514690.3:c.5755G=	XP_011512992.1:p.Glu1919=
XM_011514691.3:c.5755G=	XP_011512993.1:p.Glu1919=
XM_017010944.2:c.11680G=	XP_016866433.1:p.Glu3894=
XM_017010945.2:c.11605G=	XP_016866434.1:p.Glu3869=
XM_017010946.2:c.11485G=	XP_016866435.1:p.Glu3829=
XM_017010947.2:c.11416G=	XP_016866436.1:p.Glu3806=
XM_017010948.2:c.10969G=	XP_016866437.1:p.Glu3657=
XM_017010949.2:c.9820G=	XP_016866438.1:p.Glu3274=
NM_138694.4:c.11680G= MANE Select	NP_619639.3:p.Glu3894=