Canonical Allele Identifier: CA364434065

Gene: PKHD1

Linked Data

• dbSNP Id: rs1772479427
• gnomAD v4: 6-51659568-C-T
• MyVariant Identifiers: chr6:g.51524366C>T (hg19) ; chr6:g.51659568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659568C>T , CM000668.2:g.51659568C>T	GRCh38
NC_000006.11:g.51524366C>T , CM000668.1:g.51524366C>T	GRCh37
NC_000006.10:g.51632325C>T	NCBI36
NG_008753.1:g.433058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10558G>A MANE Select	ENSP00000360158.3:p.Val3520Ile
ENST00000371117.7:c.10558G>A	ENSP00000360158.3:p.Val3520Ile
NM_138694.3:c.10558G>A	NP_619639.3:p.Val3520Ile
XM_011514679.1:c.10558G>A	XP_011512981.1:p.Val3520Ile
XM_011514680.1:c.10558G>A	XP_011512982.1:p.Val3520Ile
XM_011514681.1:c.10429G>A	XP_011512983.1:p.Val3477Ile
XM_011514682.1:c.10420G>A	XP_011512984.1:p.Val3474Ile
XM_011514683.1:c.9916G>A	XP_011512985.1:p.Val3306Ile
XM_011514684.1:c.9847G>A	XP_011512986.1:p.Val3283Ile
XM_011514687.1:c.10157-10348G>A	XP_011512989.1:n.10157-10348G>A
XM_011514690.1:c.4633G>A	XP_011512992.1:p.Val1545Ile
XM_011514691.1:c.4633G>A	XP_011512993.1:p.Val1545Ile
XR_926870.1:n.535+7195C>T
XR_926871.1:n.403+7195C>T
XR_926872.1:n.535+7195C>T
XM_011514680.3:c.10558G>A	XP_011512982.1:p.Val3520Ile
XM_011514682.3:c.10420G>A	XP_011512984.1:p.Val3474Ile
XM_011514683.3:c.9916G>A	XP_011512985.1:p.Val3306Ile
XM_011514684.3:c.9847G>A	XP_011512986.1:p.Val3283Ile
XM_011514690.3:c.4633G>A	XP_011512992.1:p.Val1545Ile
XM_011514691.3:c.4633G>A	XP_011512993.1:p.Val1545Ile
XM_017010944.2:c.10558G>A	XP_016866433.1:p.Val3520Ile
XM_017010945.2:c.10483G>A	XP_016866434.1:p.Val3495Ile
XM_017010946.2:c.10363G>A	XP_016866435.1:p.Val3455Ile
XM_017010947.2:c.10294G>A	XP_016866436.1:p.Val3432Ile
XM_017010948.2:c.9847G>A	XP_016866437.1:p.Val3283Ile
XM_017010949.2:c.8698G>A	XP_016866438.1:p.Val2900Ile
XR_001743469.1:n.10834G>A
XR_001744157.1:n.3145+7195C>T
XR_926870.2:n.3145+7195C>T
XR_926871.2:n.3013+7195C>T
XR_926872.2:n.3145+7195C>T
NM_138694.4:c.10558G>A MANE Select	NP_619639.3:p.Val3520Ile