Canonical Allele Identifier: CA450412413

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2912328
• ClinVar RCV Id: RCV003612321
• dbSNP Id: rs2150974776
• gnomAD v4: 6-51746867-C-T
• MyVariant Identifiers: chr6:g.51611665C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51746867C>T , CM000668.2:g.51746867C>T	GRCh38
NC_000006.11:g.51611665C>T , CM000668.1:g.51611665C>T	GRCh37
NC_000006.10:g.51719624C>T	NCBI36
NG_008753.1:g.345759G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.9852G>A MANE Select	ENSP00000360158.3:p.Val3284=
ENST00000340994.4:c.9852G>A	ENSP00000341097.4:p.Val3284=
ENST00000371117.7:c.9852G>A	ENSP00000360158.3:p.Val3284=
NM_138694.3:c.9852G>A	NP_619639.3:p.Val3284=
NM_170724.2:c.9852G>A	NP_733842.2:p.Val3284=
XM_011514679.1:c.9852G>A	XP_011512981.1:p.Val3284=
XM_011514680.1:c.9852G>A	XP_011512982.1:p.Val3284=
XM_011514681.1:c.9723G>A	XP_011512983.1:p.Val3241=
XM_011514682.1:c.9714G>A	XP_011512984.1:p.Val3238=
XM_011514683.1:c.9210G>A	XP_011512985.1:p.Val3070=
XM_011514684.1:c.9141G>A	XP_011512986.1:p.Val3047=
XM_011514685.1:c.9852G>A	XP_011512987.1:p.Val3284=
XM_011514686.1:c.9852G>A	XP_011512988.1:p.Val3284=
XM_011514687.1:c.9852G>A	XP_011512989.1:p.Val3284=
XM_011514688.1:c.9836G>A	XP_011512990.1:p.Ter3279=
XM_011514690.1:c.3927G>A	XP_011512992.1:p.Val1309=
XM_011514691.1:c.3927G>A	XP_011512993.1:p.Val1309=
XM_011514680.3:c.9852G>A	XP_011512982.1:p.Val3284=
XM_011514682.3:c.9714G>A	XP_011512984.1:p.Val3238=
XM_011514683.3:c.9210G>A	XP_011512985.1:p.Val3070=
XM_011514684.3:c.9141G>A	XP_011512986.1:p.Val3047=
XM_011514686.2:c.9852G>A	XP_011512988.1:p.Val3284=
XM_011514688.2:c.9836G>A	XP_011512990.1:p.Ter3279=
XM_011514690.3:c.3927G>A	XP_011512992.1:p.Val1309=
XM_011514691.3:c.3927G>A	XP_011512993.1:p.Val1309=
XM_017010944.2:c.9852G>A	XP_016866433.1:p.Val3284=
XM_017010945.2:c.9777G>A	XP_016866434.1:p.Val3259=
XM_017010946.2:c.9657G>A	XP_016866435.1:p.Val3219=
XM_017010947.2:c.9588G>A	XP_016866436.1:p.Val3196=
XM_017010948.2:c.9141G>A	XP_016866437.1:p.Val3047=
XM_017010949.2:c.7992G>A	XP_016866438.1:p.Val2664=
XM_017010950.1:c.9852G>A	XP_016866439.1:p.Val3284=
XR_001743469.1:n.10128G>A
NM_138694.4:c.9852G>A MANE Select	NP_619639.3:p.Val3284=
NM_170724.3:c.9852G>A	NP_733842.2:p.Val3284=