Canonical Allele Identifier: CA450411487

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 696097
• ClinVar RCV Id: RCV001448678
• dbSNP Id: rs1581731432
• gnomAD v3: 6-51627007-C-A
• gnomAD v4: 6-51627007-C-A
• MyVariant Identifiers: chr6:g.51491805C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627007C>A , CM000668.2:g.51627007C>A	GRCh38
NC_000006.11:g.51491805C>A , CM000668.1:g.51491805C>A	GRCh37
NC_000006.10:g.51599764C>A	NCBI36
NG_008753.1:g.465619G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11775G>T MANE Select	ENSP00000360158.3:p.Val3925=
ENST00000371117.7:c.11775G>T	ENSP00000360158.3:p.Val3925=
NM_138694.3:c.11775G>T	NP_619639.3:p.Val3925=
XM_011514679.1:c.11775G>T	XP_011512981.1:p.Val3925=
XM_011514680.1:c.11775G>T	XP_011512982.1:p.Val3925=
XM_011514681.1:c.11646G>T	XP_011512983.1:p.Val3882=
XM_011514682.1:c.11637G>T	XP_011512984.1:p.Val3879=
XM_011514683.1:c.11133G>T	XP_011512985.1:p.Val3711=
XM_011514684.1:c.11064G>T	XP_011512986.1:p.Val3688=
XM_011514690.1:c.5850G>T	XP_011512992.1:p.Val1950=
XM_011514691.1:c.5850G>T	XP_011512993.1:p.Val1950=
XM_011514680.3:c.11775G>T	XP_011512982.1:p.Val3925=
XM_011514682.3:c.11637G>T	XP_011512984.1:p.Val3879=
XM_011514683.3:c.11133G>T	XP_011512985.1:p.Val3711=
XM_011514684.3:c.11064G>T	XP_011512986.1:p.Val3688=
XM_011514690.3:c.5850G>T	XP_011512992.1:p.Val1950=
XM_011514691.3:c.5850G>T	XP_011512993.1:p.Val1950=
XM_017010944.2:c.11775G>T	XP_016866433.1:p.Val3925=
XM_017010945.2:c.11700G>T	XP_016866434.1:p.Val3900=
XM_017010946.2:c.11580G>T	XP_016866435.1:p.Val3860=
XM_017010947.2:c.11511G>T	XP_016866436.1:p.Val3837=
XM_017010948.2:c.11064G>T	XP_016866437.1:p.Val3688=
XM_017010949.2:c.9915G>T	XP_016866438.1:p.Val3305=
NM_138694.4:c.11775G>T MANE Select	NP_619639.3:p.Val3925=