Canonical Allele Identifier: CA364436934

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659873-G-A
• MyVariant Identifiers: chr6:g.51524671G>A (hg19) ; chr6:g.51659873G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659873G>A , CM000668.2:g.51659873G>A	GRCh38
NC_000006.11:g.51524671G>A , CM000668.1:g.51524671G>A	GRCh37
NC_000006.10:g.51632630G>A	NCBI36
NG_008753.1:g.432753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10253C>T MANE Select	ENSP00000360158.3:p.Ala3418Val
ENST00000371117.7:c.10253C>T	ENSP00000360158.3:p.Ala3418Val
NM_138694.3:c.10253C>T	NP_619639.3:p.Ala3418Val
XM_011514679.1:c.10253C>T	XP_011512981.1:p.Ala3418Val
XM_011514680.1:c.10253C>T	XP_011512982.1:p.Ala3418Val
XM_011514681.1:c.10124C>T	XP_011512983.1:p.Ala3375Val
XM_011514682.1:c.10115C>T	XP_011512984.1:p.Ala3372Val
XM_011514683.1:c.9611C>T	XP_011512985.1:p.Ala3204Val
XM_011514684.1:c.9542C>T	XP_011512986.1:p.Ala3181Val
XM_011514687.1:c.10157-10653C>T	XP_011512989.1:n.10157-10653C>T
XM_011514690.1:c.4328C>T	XP_011512992.1:p.Ala1443Val
XM_011514691.1:c.4328C>T	XP_011512993.1:p.Ala1443Val
XR_926870.1:n.535+7500G>A
XR_926871.1:n.403+7500G>A
XR_926872.1:n.535+7500G>A
XM_011514680.3:c.10253C>T	XP_011512982.1:p.Ala3418Val
XM_011514682.3:c.10115C>T	XP_011512984.1:p.Ala3372Val
XM_011514683.3:c.9611C>T	XP_011512985.1:p.Ala3204Val
XM_011514684.3:c.9542C>T	XP_011512986.1:p.Ala3181Val
XM_011514690.3:c.4328C>T	XP_011512992.1:p.Ala1443Val
XM_011514691.3:c.4328C>T	XP_011512993.1:p.Ala1443Val
XM_017010944.2:c.10253C>T	XP_016866433.1:p.Ala3418Val
XM_017010945.2:c.10178C>T	XP_016866434.1:p.Ala3393Val
XM_017010946.2:c.10058C>T	XP_016866435.1:p.Ala3353Val
XM_017010947.2:c.9989C>T	XP_016866436.1:p.Ala3330Val
XM_017010948.2:c.9542C>T	XP_016866437.1:p.Ala3181Val
XM_017010949.2:c.8393C>T	XP_016866438.1:p.Ala2798Val
XR_001743469.1:n.10529C>T
XR_001744157.1:n.3145+7500G>A
XR_926870.2:n.3145+7500G>A
XR_926871.2:n.3013+7500G>A
XR_926872.2:n.3145+7500G>A
NM_138694.4:c.10253C>T MANE Select	NP_619639.3:p.Ala3418Val