Canonical Allele Identifier: CA3851096

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1545277
• ClinVar RCV Id: RCV002167785 ; RCV003893131
• dbSNP Id: rs765652131
• ExAC: 6:51524574 G / A
• gnomAD v2: 6-51524574-G-A
• gnomAD v3: 6-51659776-G-A
• gnomAD v4: 6-51659776-G-A
• MyVariant Identifiers: chr6:g.51524574G>A (hg19) ; chr6:g.51659776G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659776G>A , CM000668.2:g.51659776G>A	GRCh38
NC_000006.11:g.51524574G>A , CM000668.1:g.51524574G>A	GRCh37
NC_000006.10:g.51632533G>A	NCBI36
NG_008753.1:g.432850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10350C>T MANE Select	ENSP00000360158.3:p.Cys3450=
ENST00000371117.7:c.10350C>T	ENSP00000360158.3:p.Cys3450=
NM_138694.3:c.10350C>T	NP_619639.3:p.Cys3450=
XM_011514679.1:c.10350C>T	XP_011512981.1:p.Cys3450=
XM_011514680.1:c.10350C>T	XP_011512982.1:p.Cys3450=
XM_011514681.1:c.10221C>T	XP_011512983.1:p.Cys3407=
XM_011514682.1:c.10212C>T	XP_011512984.1:p.Cys3404=
XM_011514683.1:c.9708C>T	XP_011512985.1:p.Cys3236=
XM_011514684.1:c.9639C>T	XP_011512986.1:p.Cys3213=
XM_011514687.1:c.10157-10556C>T	XP_011512989.1:n.10157-10556C>T
XM_011514690.1:c.4425C>T	XP_011512992.1:p.Cys1475=
XM_011514691.1:c.4425C>T	XP_011512993.1:p.Cys1475=
XR_926870.1:n.535+7403G>A
XR_926871.1:n.403+7403G>A
XR_926872.1:n.535+7403G>A
XM_011514680.3:c.10350C>T	XP_011512982.1:p.Cys3450=
XM_011514682.3:c.10212C>T	XP_011512984.1:p.Cys3404=
XM_011514683.3:c.9708C>T	XP_011512985.1:p.Cys3236=
XM_011514684.3:c.9639C>T	XP_011512986.1:p.Cys3213=
XM_011514690.3:c.4425C>T	XP_011512992.1:p.Cys1475=
XM_011514691.3:c.4425C>T	XP_011512993.1:p.Cys1475=
XM_017010944.2:c.10350C>T	XP_016866433.1:p.Cys3450=
XM_017010945.2:c.10275C>T	XP_016866434.1:p.Cys3425=
XM_017010946.2:c.10155C>T	XP_016866435.1:p.Cys3385=
XM_017010947.2:c.10086C>T	XP_016866436.1:p.Cys3362=
XM_017010948.2:c.9639C>T	XP_016866437.1:p.Cys3213=
XM_017010949.2:c.8490C>T	XP_016866438.1:p.Cys2830=
XR_001743469.1:n.10626C>T
XR_001744157.1:n.3145+7403G>A
XR_926870.2:n.3145+7403G>A
XR_926871.2:n.3013+7403G>A
XR_926872.2:n.3145+7403G>A
NM_138694.4:c.10350C>T MANE Select	NP_619639.3:p.Cys3450=