Canonical Allele Identifier: CA450613191

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524433A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659635A>C , CM000668.2:g.51659635A>C	GRCh38
NC_000006.11:g.51524433A>C , CM000668.1:g.51524433A>C	GRCh37
NC_000006.10:g.51632392A>C	NCBI36
NG_008753.1:g.432991T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10491T>G MANE Select	ENSP00000360158.3:p.Ala3497=
ENST00000371117.7:c.10491T>G	ENSP00000360158.3:p.Ala3497=
NM_138694.3:c.10491T>G	NP_619639.3:p.Ala3497=
XM_011514679.1:c.10491T>G	XP_011512981.1:p.Ala3497=
XM_011514680.1:c.10491T>G	XP_011512982.1:p.Ala3497=
XM_011514681.1:c.10362T>G	XP_011512983.1:p.Ala3454=
XM_011514682.1:c.10353T>G	XP_011512984.1:p.Ala3451=
XM_011514683.1:c.9849T>G	XP_011512985.1:p.Ala3283=
XM_011514684.1:c.9780T>G	XP_011512986.1:p.Ala3260=
XM_011514687.1:c.10157-10415T>G	XP_011512989.1:n.10157-10415T>G
XM_011514690.1:c.4566T>G	XP_011512992.1:p.Ala1522=
XM_011514691.1:c.4566T>G	XP_011512993.1:p.Ala1522=
XR_926870.1:n.535+7262A>C
XR_926871.1:n.403+7262A>C
XR_926872.1:n.535+7262A>C
XM_011514680.3:c.10491T>G	XP_011512982.1:p.Ala3497=
XM_011514682.3:c.10353T>G	XP_011512984.1:p.Ala3451=
XM_011514683.3:c.9849T>G	XP_011512985.1:p.Ala3283=
XM_011514684.3:c.9780T>G	XP_011512986.1:p.Ala3260=
XM_011514690.3:c.4566T>G	XP_011512992.1:p.Ala1522=
XM_011514691.3:c.4566T>G	XP_011512993.1:p.Ala1522=
XM_017010944.2:c.10491T>G	XP_016866433.1:p.Ala3497=
XM_017010945.2:c.10416T>G	XP_016866434.1:p.Ala3472=
XM_017010946.2:c.10296T>G	XP_016866435.1:p.Ala3432=
XM_017010947.2:c.10227T>G	XP_016866436.1:p.Ala3409=
XM_017010948.2:c.9780T>G	XP_016866437.1:p.Ala3260=
XM_017010949.2:c.8631T>G	XP_016866438.1:p.Ala2877=
XR_001743469.1:n.10767T>G
XR_001744157.1:n.3145+7262A>C
XR_926870.2:n.3145+7262A>C
XR_926871.2:n.3013+7262A>C
XR_926872.2:n.3145+7262A>C
NM_138694.4:c.10491T>G MANE Select	NP_619639.3:p.Ala3497=