Canonical Allele Identifier: CA364434259

Gene: PKHD1

Linked Data

• dbSNP Id: rs1383251442
• gnomAD v2: 6-51524387-T-A
• gnomAD v4: 6-51659589-T-A
• MyVariant Identifiers: chr6:g.51524387T>A (hg19) ; chr6:g.51659589T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659589T>A , CM000668.2:g.51659589T>A	GRCh38
NC_000006.11:g.51524387T>A , CM000668.1:g.51524387T>A	GRCh37
NC_000006.10:g.51632346T>A	NCBI36
NG_008753.1:g.433037A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10537A>T MANE Select	ENSP00000360158.3:p.Ser3513Cys
ENST00000371117.7:c.10537A>T	ENSP00000360158.3:p.Ser3513Cys
NM_138694.3:c.10537A>T	NP_619639.3:p.Ser3513Cys
XM_011514679.1:c.10537A>T	XP_011512981.1:p.Ser3513Cys
XM_011514680.1:c.10537A>T	XP_011512982.1:p.Ser3513Cys
XM_011514681.1:c.10408A>T	XP_011512983.1:p.Ser3470Cys
XM_011514682.1:c.10399A>T	XP_011512984.1:p.Ser3467Cys
XM_011514683.1:c.9895A>T	XP_011512985.1:p.Ser3299Cys
XM_011514684.1:c.9826A>T	XP_011512986.1:p.Ser3276Cys
XM_011514687.1:c.10157-10369A>T	XP_011512989.1:n.10157-10369A>T
XM_011514690.1:c.4612A>T	XP_011512992.1:p.Ser1538Cys
XM_011514691.1:c.4612A>T	XP_011512993.1:p.Ser1538Cys
XR_926870.1:n.535+7216T>A
XR_926871.1:n.403+7216T>A
XR_926872.1:n.535+7216T>A
XM_011514680.3:c.10537A>T	XP_011512982.1:p.Ser3513Cys
XM_011514682.3:c.10399A>T	XP_011512984.1:p.Ser3467Cys
XM_011514683.3:c.9895A>T	XP_011512985.1:p.Ser3299Cys
XM_011514684.3:c.9826A>T	XP_011512986.1:p.Ser3276Cys
XM_011514690.3:c.4612A>T	XP_011512992.1:p.Ser1538Cys
XM_011514691.3:c.4612A>T	XP_011512993.1:p.Ser1538Cys
XM_017010944.2:c.10537A>T	XP_016866433.1:p.Ser3513Cys
XM_017010945.2:c.10462A>T	XP_016866434.1:p.Ser3488Cys
XM_017010946.2:c.10342A>T	XP_016866435.1:p.Ser3448Cys
XM_017010947.2:c.10273A>T	XP_016866436.1:p.Ser3425Cys
XM_017010948.2:c.9826A>T	XP_016866437.1:p.Ser3276Cys
XM_017010949.2:c.8677A>T	XP_016866438.1:p.Ser2893Cys
XR_001743469.1:n.10813A>T
XR_001744157.1:n.3145+7216T>A
XR_926870.2:n.3145+7216T>A
XR_926871.2:n.3013+7216T>A
XR_926872.2:n.3145+7216T>A
NM_138694.4:c.10537A>T MANE Select	NP_619639.3:p.Ser3513Cys