Canonical Allele Identifier: CA450613339

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1614586
• ClinVar RCV Id: RCV002073903
• dbSNP Id: rs1162292670
• gnomAD v2: 6-51524691-C-A
• MyVariant Identifiers: chr6:g.51524691C>A (hg19) ; chr6:g.51659893C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659893C>A , CM000668.2:g.51659893C>A	GRCh38
NC_000006.11:g.51524691C>A , CM000668.1:g.51524691C>A	GRCh37
NC_000006.10:g.51632650C>A	NCBI36
NG_008753.1:g.432733G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10233G>T MANE Select	ENSP00000360158.3:p.Val3411=
ENST00000371117.7:c.10233G>T	ENSP00000360158.3:p.Val3411=
NM_138694.3:c.10233G>T	NP_619639.3:p.Val3411=
XM_011514679.1:c.10233G>T	XP_011512981.1:p.Val3411=
XM_011514680.1:c.10233G>T	XP_011512982.1:p.Val3411=
XM_011514681.1:c.10104G>T	XP_011512983.1:p.Val3368=
XM_011514682.1:c.10095G>T	XP_011512984.1:p.Val3365=
XM_011514683.1:c.9591G>T	XP_011512985.1:p.Val3197=
XM_011514684.1:c.9522G>T	XP_011512986.1:p.Val3174=
XM_011514687.1:c.10157-10673G>T	XP_011512989.1:n.10157-10673G>T
XM_011514690.1:c.4308G>T	XP_011512992.1:p.Val1436=
XM_011514691.1:c.4308G>T	XP_011512993.1:p.Val1436=
XR_926870.1:n.535+7520C>A
XR_926871.1:n.403+7520C>A
XR_926872.1:n.535+7520C>A
XM_011514680.3:c.10233G>T	XP_011512982.1:p.Val3411=
XM_011514682.3:c.10095G>T	XP_011512984.1:p.Val3365=
XM_011514683.3:c.9591G>T	XP_011512985.1:p.Val3197=
XM_011514684.3:c.9522G>T	XP_011512986.1:p.Val3174=
XM_011514690.3:c.4308G>T	XP_011512992.1:p.Val1436=
XM_011514691.3:c.4308G>T	XP_011512993.1:p.Val1436=
XM_017010944.2:c.10233G>T	XP_016866433.1:p.Val3411=
XM_017010945.2:c.10158G>T	XP_016866434.1:p.Val3386=
XM_017010946.2:c.10038G>T	XP_016866435.1:p.Val3346=
XM_017010947.2:c.9969G>T	XP_016866436.1:p.Val3323=
XM_017010948.2:c.9522G>T	XP_016866437.1:p.Val3174=
XM_017010949.2:c.8373G>T	XP_016866438.1:p.Val2791=
XR_001743469.1:n.10509G>T
XR_001744157.1:n.3145+7520C>A
XR_926870.2:n.3145+7520C>A
XR_926871.2:n.3013+7520C>A
XR_926872.2:n.3145+7520C>A
NM_138694.4:c.10233G>T MANE Select	NP_619639.3:p.Val3411=