Canonical Allele Identifier: CA3851098

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 262382
• ClinVar RCV Id: RCV000250925
• dbSNP Id: rs763589152
• ExAC: 6:51524593 A / G
• gnomAD v2: 6-51524593-A-G
• gnomAD v4: 6-51659795-A-G
• MyVariant Identifiers: chr6:g.51524593A>G (hg19) ; chr6:g.51659795A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659795A>G , CM000668.2:g.51659795A>G	GRCh38
NC_000006.11:g.51524593A>G , CM000668.1:g.51524593A>G	GRCh37
NC_000006.10:g.51632552A>G	NCBI36
NG_008753.1:g.432831T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10331T>C MANE Select	ENSP00000360158.3:p.Val3444Ala
ENST00000371117.7:c.10331T>C	ENSP00000360158.3:p.Val3444Ala
NM_138694.3:c.10331T>C	NP_619639.3:p.Val3444Ala
XM_011514679.1:c.10331T>C	XP_011512981.1:p.Val3444Ala
XM_011514680.1:c.10331T>C	XP_011512982.1:p.Val3444Ala
XM_011514681.1:c.10202T>C	XP_011512983.1:p.Val3401Ala
XM_011514682.1:c.10193T>C	XP_011512984.1:p.Val3398Ala
XM_011514683.1:c.9689T>C	XP_011512985.1:p.Val3230Ala
XM_011514684.1:c.9620T>C	XP_011512986.1:p.Val3207Ala
XM_011514687.1:c.10157-10575T>C	XP_011512989.1:n.10157-10575T>C
XM_011514690.1:c.4406T>C	XP_011512992.1:p.Val1469Ala
XM_011514691.1:c.4406T>C	XP_011512993.1:p.Val1469Ala
XR_926870.1:n.535+7422A>G
XR_926871.1:n.403+7422A>G
XR_926872.1:n.535+7422A>G
XM_011514680.3:c.10331T>C	XP_011512982.1:p.Val3444Ala
XM_011514682.3:c.10193T>C	XP_011512984.1:p.Val3398Ala
XM_011514683.3:c.9689T>C	XP_011512985.1:p.Val3230Ala
XM_011514684.3:c.9620T>C	XP_011512986.1:p.Val3207Ala
XM_011514690.3:c.4406T>C	XP_011512992.1:p.Val1469Ala
XM_011514691.3:c.4406T>C	XP_011512993.1:p.Val1469Ala
XM_017010944.2:c.10331T>C	XP_016866433.1:p.Val3444Ala
XM_017010945.2:c.10256T>C	XP_016866434.1:p.Val3419Ala
XM_017010946.2:c.10136T>C	XP_016866435.1:p.Val3379Ala
XM_017010947.2:c.10067T>C	XP_016866436.1:p.Val3356Ala
XM_017010948.2:c.9620T>C	XP_016866437.1:p.Val3207Ala
XM_017010949.2:c.8471T>C	XP_016866438.1:p.Val2824Ala
XR_001743469.1:n.10607T>C
XR_001744157.1:n.3145+7422A>G
XR_926870.2:n.3145+7422A>G
XR_926871.2:n.3013+7422A>G
XR_926872.2:n.3145+7422A>G
NM_138694.4:c.10331T>C MANE Select	NP_619639.3:p.Val3444Ala