Canonical Allele Identifier: CA3850996

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1009030
• ClinVar RCV Id: RCV001306457 ; RCV002499580
• dbSNP Id: rs145219220
• ExAC: 6:51524036 G / A
• gnomAD v2: 6-51524036-G-A
• gnomAD v3: 6-51659238-G-A
• gnomAD v4: 6-51659238-G-A
• MyVariant Identifiers: chr6:g.51524036G>A (hg19) ; chr6:g.51659238G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659238G>A , CM000668.2:g.51659238G>A	GRCh38
NC_000006.11:g.51524036G>A , CM000668.1:g.51524036G>A	GRCh37
NC_000006.10:g.51631995G>A	NCBI36
NG_008753.1:g.433388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10888C>T MANE Select	ENSP00000360158.3:p.His3630Tyr
ENST00000371117.7:c.10888C>T	ENSP00000360158.3:p.His3630Tyr
NM_138694.3:c.10888C>T	NP_619639.3:p.His3630Tyr
XM_011514679.1:c.10888C>T	XP_011512981.1:p.His3630Tyr
XM_011514680.1:c.10888C>T	XP_011512982.1:p.His3630Tyr
XM_011514681.1:c.10759C>T	XP_011512983.1:p.His3587Tyr
XM_011514682.1:c.10750C>T	XP_011512984.1:p.His3584Tyr
XM_011514683.1:c.10246C>T	XP_011512985.1:p.His3416Tyr
XM_011514684.1:c.10177C>T	XP_011512986.1:p.His3393Tyr
XM_011514687.1:c.10157-10018C>T	XP_011512989.1:n.10157-10018C>T
XM_011514690.1:c.4963C>T	XP_011512992.1:p.His1655Tyr
XM_011514691.1:c.4963C>T	XP_011512993.1:p.His1655Tyr
XR_926870.1:n.535+6865G>A
XR_926871.1:n.403+6865G>A
XR_926872.1:n.535+6865G>A
XM_011514680.3:c.10888C>T	XP_011512982.1:p.His3630Tyr
XM_011514682.3:c.10750C>T	XP_011512984.1:p.His3584Tyr
XM_011514683.3:c.10246C>T	XP_011512985.1:p.His3416Tyr
XM_011514684.3:c.10177C>T	XP_011512986.1:p.His3393Tyr
XM_011514690.3:c.4963C>T	XP_011512992.1:p.His1655Tyr
XM_011514691.3:c.4963C>T	XP_011512993.1:p.His1655Tyr
XM_017010944.2:c.10888C>T	XP_016866433.1:p.His3630Tyr
XM_017010945.2:c.10813C>T	XP_016866434.1:p.His3605Tyr
XM_017010946.2:c.10693C>T	XP_016866435.1:p.His3565Tyr
XM_017010947.2:c.10624C>T	XP_016866436.1:p.His3542Tyr
XM_017010948.2:c.10177C>T	XP_016866437.1:p.His3393Tyr
XM_017010949.2:c.9028C>T	XP_016866438.1:p.His3010Tyr
XR_001743469.1:n.11164C>T
XR_001744157.1:n.3145+6865G>A
XR_926870.2:n.3145+6865G>A
XR_926871.2:n.3013+6865G>A
XR_926872.2:n.3145+6865G>A
NM_138694.4:c.10888C>T MANE Select	NP_619639.3:p.His3630Tyr