Canonical Allele Identifier: CA224082

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 96412
• ClinVar RCV Id: RCV000082562 ; RCV000671325 ; RCV003945030
• dbSNP Id: rs149553146
• ExAC: 6:51875127 G / A
• gnomAD v2: 6-51875127-G-A
• gnomAD v3: 6-52010329-G-A
• gnomAD v4: 6-52010329-G-A
• MyVariant Identifiers: chr6:g.51875127G>A (hg19) ; chr6:g.52010329G>A (hg38)
• PubMed: PMID:25961944

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52010329G>A , CM000668.2:g.52010329G>A	GRCh38
NC_000006.11:g.51875127G>A , CM000668.1:g.51875127G>A	GRCh37
NC_000006.10:g.51983086G>A	NCBI36
NG_008753.1:g.82297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.5731C>T MANE Select	ENSP00000360158.3:p.Arg1911Cys
ENST00000340994.4:c.5731C>T	ENSP00000341097.4:p.Arg1911Cys
ENST00000371117.7:c.5731C>T	ENSP00000360158.3:p.Arg1911Cys
NM_138694.3:c.5731C>T	NP_619639.3:p.Arg1911Cys
NM_170724.2:c.5731C>T	NP_733842.2:p.Arg1911Cys
XM_011514679.1:c.5731C>T	XP_011512981.1:p.Arg1911Cys
XM_011514680.1:c.5731C>T	XP_011512982.1:p.Arg1911Cys
XM_011514681.1:c.5731C>T	XP_011512983.1:p.Arg1911Cys
XM_011514682.1:c.5731C>T	XP_011512984.1:p.Arg1911Cys
XM_011514683.1:c.5089C>T	XP_011512985.1:p.Arg1697Cys
XM_011514684.1:c.5020C>T	XP_011512986.1:p.Arg1674Cys
XM_011514685.1:c.5731C>T	XP_011512987.1:p.Arg1911Cys
XM_011514686.1:c.5731C>T	XP_011512988.1:p.Arg1911Cys
XM_011514687.1:c.5731C>T	XP_011512989.1:p.Arg1911Cys
XM_011514688.1:c.5731C>T	XP_011512990.1:p.Arg1911Cys
XM_011514689.1:c.5731C>T	XP_011512991.1:p.Arg1911Cys
XM_011514690.1:c.-38C>T	XP_011512992.1:n.-38C>T
XM_011514680.3:c.5731C>T	XP_011512982.1:p.Arg1911Cys
XM_011514682.3:c.5731C>T	XP_011512984.1:p.Arg1911Cys
XM_011514683.3:c.5089C>T	XP_011512985.1:p.Arg1697Cys
XM_011514684.3:c.5020C>T	XP_011512986.1:p.Arg1674Cys
XM_011514686.2:c.5731C>T	XP_011512988.1:p.Arg1911Cys
XM_011514688.2:c.5731C>T	XP_011512990.1:p.Arg1911Cys
XM_011514690.3:c.-38C>T	XP_011512992.1:n.-38C>T
XM_017010944.2:c.5731C>T	XP_016866433.1:p.Arg1911Cys
XM_017010945.2:c.5656C>T	XP_016866434.1:p.Arg1886Cys
XM_017010946.2:c.5731C>T	XP_016866435.1:p.Arg1911Cys
XM_017010947.2:c.5467C>T	XP_016866436.1:p.Arg1823Cys
XM_017010948.2:c.5020C>T	XP_016866437.1:p.Arg1674Cys
XM_017010949.2:c.3871C>T	XP_016866438.1:p.Arg1291Cys
XM_017010950.1:c.5731C>T	XP_016866439.1:p.Arg1911Cys
XM_017010951.1:c.5731C>T	XP_016866440.1:p.Arg1911Cys
XM_017010952.1:c.5731C>T	XP_016866441.1:p.Arg1911Cys
XR_001743469.1:n.6007C>T
NM_138694.4:c.5731C>T MANE Select	NP_619639.3:p.Arg1911Cys
NM_170724.3:c.5731C>T	NP_733842.2:p.Arg1911Cys