Canonical Allele Identifier: CA450613917

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2916706
• ClinVar RCV Id: RCV003612432
• dbSNP Id: rs1329484844
• gnomAD v2: 6-51889685-A-G
• gnomAD v4: 6-52024887-A-G
• MyVariant Identifiers: chr6:g.51889685A>G (hg19) ; chr6:g.52024887A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52024887A>G , CM000668.2:g.52024887A>G	GRCh38
NC_000006.11:g.51889685A>G , CM000668.1:g.51889685A>G	GRCh37
NC_000006.10:g.51997644A>G	NCBI36
NG_008753.1:g.67739T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.4923T>C MANE Select	ENSP00000360158.3:p.Asp1641=
ENST00000340994.4:c.4923T>C	ENSP00000341097.4:p.Asp1641=
ENST00000371117.7:c.4923T>C	ENSP00000360158.3:p.Asp1641=
NM_138694.3:c.4923T>C	NP_619639.3:p.Asp1641=
NM_170724.2:c.4923T>C	NP_733842.2:p.Asp1641=
XM_011514679.1:c.4923T>C	XP_011512981.1:p.Asp1641=
XM_011514680.1:c.4923T>C	XP_011512982.1:p.Asp1641=
XM_011514681.1:c.4923T>C	XP_011512983.1:p.Asp1641=
XM_011514682.1:c.4923T>C	XP_011512984.1:p.Asp1641=
XM_011514683.1:c.4281T>C	XP_011512985.1:p.Asp1427=
XM_011514684.1:c.4212T>C	XP_011512986.1:p.Asp1404=
XM_011514685.1:c.4923T>C	XP_011512987.1:p.Asp1641=
XM_011514686.1:c.4923T>C	XP_011512988.1:p.Asp1641=
XM_011514687.1:c.4923T>C	XP_011512989.1:p.Asp1641=
XM_011514688.1:c.4923T>C	XP_011512990.1:p.Asp1641=
XM_011514689.1:c.4923T>C	XP_011512991.1:p.Asp1641=
XM_011514680.3:c.4923T>C	XP_011512982.1:p.Asp1641=
XM_011514682.3:c.4923T>C	XP_011512984.1:p.Asp1641=
XM_011514683.3:c.4281T>C	XP_011512985.1:p.Asp1427=
XM_011514684.3:c.4212T>C	XP_011512986.1:p.Asp1404=
XM_011514686.2:c.4923T>C	XP_011512988.1:p.Asp1641=
XM_011514688.2:c.4923T>C	XP_011512990.1:p.Asp1641=
XM_017010944.2:c.4923T>C	XP_016866433.1:p.Asp1641=
XM_017010945.2:c.4848T>C	XP_016866434.1:p.Asp1616=
XM_017010946.2:c.4923T>C	XP_016866435.1:p.Asp1641=
XM_017010947.2:c.4659T>C	XP_016866436.1:p.Asp1553=
XM_017010948.2:c.4212T>C	XP_016866437.1:p.Asp1404=
XM_017010949.2:c.3063T>C	XP_016866438.1:p.Asp1021=
XM_017010950.1:c.4923T>C	XP_016866439.1:p.Asp1641=
XM_017010951.1:c.4923T>C	XP_016866440.1:p.Asp1641=
XM_017010952.1:c.4923T>C	XP_016866441.1:p.Asp1641=
XR_001743469.1:n.5199T>C
NM_138694.4:c.4923T>C MANE Select	NP_619639.3:p.Asp1641=
NM_170724.3:c.4923T>C	NP_733842.2:p.Asp1641=