Canonical Allele Identifier: CA364421541

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 434018
• ClinVar RCV Id: RCV000500109 ; RCV001291854 ; RCV002506218
• dbSNP Id: rs1210846081
• gnomAD v4: 6-51959953-T-C
• MyVariant Identifiers: chr6:g.51824751T>C (hg19) ; chr6:g.51959953T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51959953T>C , CM000668.2:g.51959953T>C	GRCh38
NC_000006.11:g.51824751T>C , CM000668.1:g.51824751T>C	GRCh37
NC_000006.10:g.51932710T>C	NCBI36
NG_008753.1:g.132673A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.5825A>G MANE Select	ENSP00000360158.3:p.Asp1942Gly
ENST00000340994.4:c.5825A>G	ENSP00000341097.4:p.Asp1942Gly
ENST00000371117.7:c.5825A>G	ENSP00000360158.3:p.Asp1942Gly
NM_138694.3:c.5825A>G	NP_619639.3:p.Asp1942Gly
NM_170724.2:c.5825A>G	NP_733842.2:p.Asp1942Gly
XM_011514679.1:c.5825A>G	XP_011512981.1:p.Asp1942Gly
XM_011514680.1:c.5825A>G	XP_011512982.1:p.Asp1942Gly
XM_011514681.1:c.5825A>G	XP_011512983.1:p.Asp1942Gly
XM_011514682.1:c.5825A>G	XP_011512984.1:p.Asp1942Gly
XM_011514683.1:c.5183A>G	XP_011512985.1:p.Asp1728Gly
XM_011514684.1:c.5114A>G	XP_011512986.1:p.Asp1705Gly
XM_011514685.1:c.5825A>G	XP_011512987.1:p.Asp1942Gly
XM_011514686.1:c.5825A>G	XP_011512988.1:p.Asp1942Gly
XM_011514687.1:c.5825A>G	XP_011512989.1:p.Asp1942Gly
XM_011514688.1:c.5825A>G	XP_011512990.1:p.Asp1942Gly
XM_011514689.1:c.5825A>G	XP_011512991.1:p.Asp1942Gly
XM_011514690.1:c.-17-25631A>G	XP_011512992.1:n.-17-25631A>G
XM_011514680.3:c.5825A>G	XP_011512982.1:p.Asp1942Gly
XM_011514682.3:c.5825A>G	XP_011512984.1:p.Asp1942Gly
XM_011514683.3:c.5183A>G	XP_011512985.1:p.Asp1728Gly
XM_011514684.3:c.5114A>G	XP_011512986.1:p.Asp1705Gly
XM_011514686.2:c.5825A>G	XP_011512988.1:p.Asp1942Gly
XM_011514688.2:c.5825A>G	XP_011512990.1:p.Asp1942Gly
XM_011514690.3:c.-17-25631A>G	XP_011512992.1:n.-17-25631A>G
XM_017010944.2:c.5825A>G	XP_016866433.1:p.Asp1942Gly
XM_017010945.2:c.5750A>G	XP_016866434.1:p.Asp1917Gly
XM_017010946.2:c.5825A>G	XP_016866435.1:p.Asp1942Gly
XM_017010947.2:c.5561A>G	XP_016866436.1:p.Asp1854Gly
XM_017010948.2:c.5114A>G	XP_016866437.1:p.Asp1705Gly
XM_017010949.2:c.3965A>G	XP_016866438.1:p.Asp1322Gly
XM_017010950.1:c.5825A>G	XP_016866439.1:p.Asp1942Gly
XM_017010951.1:c.5825A>G	XP_016866440.1:p.Asp1942Gly
XM_017010952.1:c.5825A>G	XP_016866441.1:p.Asp1942Gly
XR_001743469.1:n.6101A>G
NM_138694.4:c.5825A>G MANE Select	NP_619639.3:p.Asp1942Gly
NM_170724.3:c.5825A>G	NP_733842.2:p.Asp1942Gly