Canonical Allele Identifier: CA450613180

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1129620
• ClinVar RCV Id: RCV001462834
• dbSNP Id: rs2150415751
• gnomAD v4: 6-51659623-A-G
• MyVariant Identifiers: chr6:g.51524421A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659623A>G , CM000668.2:g.51659623A>G	GRCh38
NC_000006.11:g.51524421A>G , CM000668.1:g.51524421A>G	GRCh37
NC_000006.10:g.51632380A>G	NCBI36
NG_008753.1:g.433003T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.10503T>C MANE Select	ENSP00000360158.3:p.His3501=
ENST00000371117.7:c.10503T>C	ENSP00000360158.3:p.His3501=
NM_138694.3:c.10503T>C	NP_619639.3:p.His3501=
XM_011514679.1:c.10503T>C	XP_011512981.1:p.His3501=
XM_011514680.1:c.10503T>C	XP_011512982.1:p.His3501=
XM_011514681.1:c.10374T>C	XP_011512983.1:p.His3458=
XM_011514682.1:c.10365T>C	XP_011512984.1:p.His3455=
XM_011514683.1:c.9861T>C	XP_011512985.1:p.His3287=
XM_011514684.1:c.9792T>C	XP_011512986.1:p.His3264=
XM_011514687.1:c.10157-10403T>C	XP_011512989.1:n.10157-10403T>C
XM_011514690.1:c.4578T>C	XP_011512992.1:p.His1526=
XM_011514691.1:c.4578T>C	XP_011512993.1:p.His1526=
XR_926870.1:n.535+7250A>G
XR_926871.1:n.403+7250A>G
XR_926872.1:n.535+7250A>G
XM_011514680.3:c.10503T>C	XP_011512982.1:p.His3501=
XM_011514682.3:c.10365T>C	XP_011512984.1:p.His3455=
XM_011514683.3:c.9861T>C	XP_011512985.1:p.His3287=
XM_011514684.3:c.9792T>C	XP_011512986.1:p.His3264=
XM_011514690.3:c.4578T>C	XP_011512992.1:p.His1526=
XM_011514691.3:c.4578T>C	XP_011512993.1:p.His1526=
XM_017010944.2:c.10503T>C	XP_016866433.1:p.His3501=
XM_017010945.2:c.10428T>C	XP_016866434.1:p.His3476=
XM_017010946.2:c.10308T>C	XP_016866435.1:p.His3436=
XM_017010947.2:c.10239T>C	XP_016866436.1:p.His3413=
XM_017010948.2:c.9792T>C	XP_016866437.1:p.His3264=
XM_017010949.2:c.8643T>C	XP_016866438.1:p.His2881=
XR_001743469.1:n.10779T>C
XR_001744157.1:n.3145+7250A>G
XR_926870.2:n.3145+7250A>G
XR_926871.2:n.3013+7250A>G
XR_926872.2:n.3145+7250A>G
NM_138694.4:c.10503T>C MANE Select	NP_619639.3:p.His3501=