Canonical Allele Identifier: CA450613313

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1135361
• ClinVar RCV Id: RCV001470620
• dbSNP Id: rs1207558563
• gnomAD v2: 6-51524649-C-T
• gnomAD v3: 6-51659851-C-T
• gnomAD v4: 6-51659851-C-T
• MyVariant Identifiers: chr6:g.51524649C>T (hg19) ; chr6:g.51659851C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659851C>T , CM000668.2:g.51659851C>T	GRCh38
NC_000006.11:g.51524649C>T , CM000668.1:g.51524649C>T	GRCh37
NC_000006.10:g.51632608C>T	NCBI36
NG_008753.1:g.432775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10275G>A MANE Select	ENSP00000360158.3:p.Gln3425=
ENST00000371117.7:c.10275G>A	ENSP00000360158.3:p.Gln3425=
NM_138694.3:c.10275G>A	NP_619639.3:p.Gln3425=
XM_011514679.1:c.10275G>A	XP_011512981.1:p.Gln3425=
XM_011514680.1:c.10275G>A	XP_011512982.1:p.Gln3425=
XM_011514681.1:c.10146G>A	XP_011512983.1:p.Gln3382=
XM_011514682.1:c.10137G>A	XP_011512984.1:p.Gln3379=
XM_011514683.1:c.9633G>A	XP_011512985.1:p.Gln3211=
XM_011514684.1:c.9564G>A	XP_011512986.1:p.Gln3188=
XM_011514687.1:c.10157-10631G>A	XP_011512989.1:n.10157-10631G>A
XM_011514690.1:c.4350G>A	XP_011512992.1:p.Gln1450=
XM_011514691.1:c.4350G>A	XP_011512993.1:p.Gln1450=
XR_926870.1:n.535+7478C>T
XR_926871.1:n.403+7478C>T
XR_926872.1:n.535+7478C>T
XM_011514680.3:c.10275G>A	XP_011512982.1:p.Gln3425=
XM_011514682.3:c.10137G>A	XP_011512984.1:p.Gln3379=
XM_011514683.3:c.9633G>A	XP_011512985.1:p.Gln3211=
XM_011514684.3:c.9564G>A	XP_011512986.1:p.Gln3188=
XM_011514690.3:c.4350G>A	XP_011512992.1:p.Gln1450=
XM_011514691.3:c.4350G>A	XP_011512993.1:p.Gln1450=
XM_017010944.2:c.10275G>A	XP_016866433.1:p.Gln3425=
XM_017010945.2:c.10200G>A	XP_016866434.1:p.Gln3400=
XM_017010946.2:c.10080G>A	XP_016866435.1:p.Gln3360=
XM_017010947.2:c.10011G>A	XP_016866436.1:p.Gln3337=
XM_017010948.2:c.9564G>A	XP_016866437.1:p.Gln3188=
XM_017010949.2:c.8415G>A	XP_016866438.1:p.Gln2805=
XR_001743469.1:n.10551G>A
XR_001744157.1:n.3145+7478C>T
XR_926870.2:n.3145+7478C>T
XR_926871.2:n.3013+7478C>T
XR_926872.2:n.3145+7478C>T
NM_138694.4:c.10275G>A MANE Select	NP_619639.3:p.Gln3425=