Canonical Allele Identifier: CA450613318

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524655T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659857T>G , CM000668.2:g.51659857T>G	GRCh38
NC_000006.11:g.51524655T>G , CM000668.1:g.51524655T>G	GRCh37
NC_000006.10:g.51632614T>G	NCBI36
NG_008753.1:g.432769A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10269A>C MANE Select	ENSP00000360158.3:p.Ala3423=
ENST00000371117.7:c.10269A>C	ENSP00000360158.3:p.Ala3423=
NM_138694.3:c.10269A>C	NP_619639.3:p.Ala3423=
XM_011514679.1:c.10269A>C	XP_011512981.1:p.Ala3423=
XM_011514680.1:c.10269A>C	XP_011512982.1:p.Ala3423=
XM_011514681.1:c.10140A>C	XP_011512983.1:p.Ala3380=
XM_011514682.1:c.10131A>C	XP_011512984.1:p.Ala3377=
XM_011514683.1:c.9627A>C	XP_011512985.1:p.Ala3209=
XM_011514684.1:c.9558A>C	XP_011512986.1:p.Ala3186=
XM_011514687.1:c.10157-10637A>C	XP_011512989.1:n.10157-10637A>C
XM_011514690.1:c.4344A>C	XP_011512992.1:p.Ala1448=
XM_011514691.1:c.4344A>C	XP_011512993.1:p.Ala1448=
XR_926870.1:n.535+7484T>G
XR_926871.1:n.403+7484T>G
XR_926872.1:n.535+7484T>G
XM_011514680.3:c.10269A>C	XP_011512982.1:p.Ala3423=
XM_011514682.3:c.10131A>C	XP_011512984.1:p.Ala3377=
XM_011514683.3:c.9627A>C	XP_011512985.1:p.Ala3209=
XM_011514684.3:c.9558A>C	XP_011512986.1:p.Ala3186=
XM_011514690.3:c.4344A>C	XP_011512992.1:p.Ala1448=
XM_011514691.3:c.4344A>C	XP_011512993.1:p.Ala1448=
XM_017010944.2:c.10269A>C	XP_016866433.1:p.Ala3423=
XM_017010945.2:c.10194A>C	XP_016866434.1:p.Ala3398=
XM_017010946.2:c.10074A>C	XP_016866435.1:p.Ala3358=
XM_017010947.2:c.10005A>C	XP_016866436.1:p.Ala3335=
XM_017010948.2:c.9558A>C	XP_016866437.1:p.Ala3186=
XM_017010949.2:c.8409A>C	XP_016866438.1:p.Ala2803=
XR_001743469.1:n.10545A>C
XR_001744157.1:n.3145+7484T>G
XR_926870.2:n.3145+7484T>G
XR_926871.2:n.3013+7484T>G
XR_926872.2:n.3145+7484T>G
NM_138694.4:c.10269A>C MANE Select	NP_619639.3:p.Ala3423=