Canonical Allele Identifier: CA364418391

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 573706
• ClinVar RCV Id: RCV000695438
• dbSNP Id: rs1561981487
• gnomAD v4: 6-51627014-T-C
• MyVariant Identifiers: chr6:g.51491812T>C (hg19) ; chr6:g.51627014T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627014T>C , CM000668.2:g.51627014T>C	GRCh38
NC_000006.11:g.51491812T>C , CM000668.1:g.51491812T>C	GRCh37
NC_000006.10:g.51599771T>C	NCBI36
NG_008753.1:g.465612A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11768A>G MANE Select	ENSP00000360158.3:p.Asp3923Gly
ENST00000371117.7:c.11768A>G	ENSP00000360158.3:p.Asp3923Gly
NM_138694.3:c.11768A>G	NP_619639.3:p.Asp3923Gly
XM_011514679.1:c.11768A>G	XP_011512981.1:p.Asp3923Gly
XM_011514680.1:c.11768A>G	XP_011512982.1:p.Asp3923Gly
XM_011514681.1:c.11639A>G	XP_011512983.1:p.Asp3880Gly
XM_011514682.1:c.11630A>G	XP_011512984.1:p.Asp3877Gly
XM_011514683.1:c.11126A>G	XP_011512985.1:p.Asp3709Gly
XM_011514684.1:c.11057A>G	XP_011512986.1:p.Asp3686Gly
XM_011514690.1:c.5843A>G	XP_011512992.1:p.Asp1948Gly
XM_011514691.1:c.5843A>G	XP_011512993.1:p.Asp1948Gly
XM_011514680.3:c.11768A>G	XP_011512982.1:p.Asp3923Gly
XM_011514682.3:c.11630A>G	XP_011512984.1:p.Asp3877Gly
XM_011514683.3:c.11126A>G	XP_011512985.1:p.Asp3709Gly
XM_011514684.3:c.11057A>G	XP_011512986.1:p.Asp3686Gly
XM_011514690.3:c.5843A>G	XP_011512992.1:p.Asp1948Gly
XM_011514691.3:c.5843A>G	XP_011512993.1:p.Asp1948Gly
XM_017010944.2:c.11768A>G	XP_016866433.1:p.Asp3923Gly
XM_017010945.2:c.11693A>G	XP_016866434.1:p.Asp3898Gly
XM_017010946.2:c.11573A>G	XP_016866435.1:p.Asp3858Gly
XM_017010947.2:c.11504A>G	XP_016866436.1:p.Asp3835Gly
XM_017010948.2:c.11057A>G	XP_016866437.1:p.Asp3686Gly
XM_017010949.2:c.9908A>G	XP_016866438.1:p.Asp3303Gly
NM_138694.4:c.11768A>G MANE Select	NP_619639.3:p.Asp3923Gly