Canonical Allele Identifier: CA3851071

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1586252
• ClinVar RCV Id: RCV002098134
• dbSNP Id: rs770611675
• ExAC: 6:51524454 A / G
• gnomAD v2: 6-51524454-A-G
• gnomAD v3: 6-51659656-A-G
• gnomAD v4: 6-51659656-A-G
• MyVariant Identifiers: chr6:g.51524454A>G (hg19) ; chr6:g.51659656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659656A>G , CM000668.2:g.51659656A>G	GRCh38
NC_000006.11:g.51524454A>G , CM000668.1:g.51524454A>G	GRCh37
NC_000006.10:g.51632413A>G	NCBI36
NG_008753.1:g.432970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10470T>C MANE Select	ENSP00000360158.3:p.Ser3490=
ENST00000371117.7:c.10470T>C	ENSP00000360158.3:p.Ser3490=
NM_138694.3:c.10470T>C	NP_619639.3:p.Ser3490=
XM_011514679.1:c.10470T>C	XP_011512981.1:p.Ser3490=
XM_011514680.1:c.10470T>C	XP_011512982.1:p.Ser3490=
XM_011514681.1:c.10341T>C	XP_011512983.1:p.Ser3447=
XM_011514682.1:c.10332T>C	XP_011512984.1:p.Ser3444=
XM_011514683.1:c.9828T>C	XP_011512985.1:p.Ser3276=
XM_011514684.1:c.9759T>C	XP_011512986.1:p.Ser3253=
XM_011514687.1:c.10157-10436T>C	XP_011512989.1:n.10157-10436T>C
XM_011514690.1:c.4545T>C	XP_011512992.1:p.Ser1515=
XM_011514691.1:c.4545T>C	XP_011512993.1:p.Ser1515=
XR_926870.1:n.535+7283A>G
XR_926871.1:n.403+7283A>G
XR_926872.1:n.535+7283A>G
XM_011514680.3:c.10470T>C	XP_011512982.1:p.Ser3490=
XM_011514682.3:c.10332T>C	XP_011512984.1:p.Ser3444=
XM_011514683.3:c.9828T>C	XP_011512985.1:p.Ser3276=
XM_011514684.3:c.9759T>C	XP_011512986.1:p.Ser3253=
XM_011514690.3:c.4545T>C	XP_011512992.1:p.Ser1515=
XM_011514691.3:c.4545T>C	XP_011512993.1:p.Ser1515=
XM_017010944.2:c.10470T>C	XP_016866433.1:p.Ser3490=
XM_017010945.2:c.10395T>C	XP_016866434.1:p.Ser3465=
XM_017010946.2:c.10275T>C	XP_016866435.1:p.Ser3425=
XM_017010947.2:c.10206T>C	XP_016866436.1:p.Ser3402=
XM_017010948.2:c.9759T>C	XP_016866437.1:p.Ser3253=
XM_017010949.2:c.8610T>C	XP_016866438.1:p.Ser2870=
XR_001743469.1:n.10746T>C
XR_001744157.1:n.3145+7283A>G
XR_926870.2:n.3145+7283A>G
XR_926871.2:n.3013+7283A>G
XR_926872.2:n.3145+7283A>G
NM_138694.4:c.10470T>C MANE Select	NP_619639.3:p.Ser3490=