Canonical Allele Identifier: CA450613004

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2881163
• ClinVar RCV Id: RCV003611287
• MyVariant Identifiers: chr6:g.51524361C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659563C>T , CM000668.2:g.51659563C>T	GRCh38
NC_000006.11:g.51524361C>T , CM000668.1:g.51524361C>T	GRCh37
NC_000006.10:g.51632320C>T	NCBI36
NG_008753.1:g.433063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10563G>A MANE Select	ENSP00000360158.3:p.Gln3521=
ENST00000371117.7:c.10563G>A	ENSP00000360158.3:p.Gln3521=
NM_138694.3:c.10563G>A	NP_619639.3:p.Gln3521=
XM_011514679.1:c.10563G>A	XP_011512981.1:p.Gln3521=
XM_011514680.1:c.10563G>A	XP_011512982.1:p.Gln3521=
XM_011514681.1:c.10434G>A	XP_011512983.1:p.Gln3478=
XM_011514682.1:c.10425G>A	XP_011512984.1:p.Gln3475=
XM_011514683.1:c.9921G>A	XP_011512985.1:p.Gln3307=
XM_011514684.1:c.9852G>A	XP_011512986.1:p.Gln3284=
XM_011514687.1:c.10157-10343G>A	XP_011512989.1:n.10157-10343G>A
XM_011514690.1:c.4638G>A	XP_011512992.1:p.Gln1546=
XM_011514691.1:c.4638G>A	XP_011512993.1:p.Gln1546=
XR_926870.1:n.535+7190C>T
XR_926871.1:n.403+7190C>T
XR_926872.1:n.535+7190C>T
XM_011514680.3:c.10563G>A	XP_011512982.1:p.Gln3521=
XM_011514682.3:c.10425G>A	XP_011512984.1:p.Gln3475=
XM_011514683.3:c.9921G>A	XP_011512985.1:p.Gln3307=
XM_011514684.3:c.9852G>A	XP_011512986.1:p.Gln3284=
XM_011514690.3:c.4638G>A	XP_011512992.1:p.Gln1546=
XM_011514691.3:c.4638G>A	XP_011512993.1:p.Gln1546=
XM_017010944.2:c.10563G>A	XP_016866433.1:p.Gln3521=
XM_017010945.2:c.10488G>A	XP_016866434.1:p.Gln3496=
XM_017010946.2:c.10368G>A	XP_016866435.1:p.Gln3456=
XM_017010947.2:c.10299G>A	XP_016866436.1:p.Gln3433=
XM_017010948.2:c.9852G>A	XP_016866437.1:p.Gln3284=
XM_017010949.2:c.8703G>A	XP_016866438.1:p.Gln2901=
XR_001743469.1:n.10839G>A
XR_001744157.1:n.3145+7190C>T
XR_926870.2:n.3145+7190C>T
XR_926871.2:n.3013+7190C>T
XR_926872.2:n.3145+7190C>T
NM_138694.4:c.10563G>A MANE Select	NP_619639.3:p.Gln3521=