Canonical Allele Identifier: CA450612691

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523887T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659089T>C , CM000668.2:g.51659089T>C	GRCh38
NC_000006.11:g.51523887T>C , CM000668.1:g.51523887T>C	GRCh37
NC_000006.10:g.51631846T>C	NCBI36
NG_008753.1:g.433537A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11037A>G MANE Select	ENSP00000360158.3:p.Ser3679=
ENST00000371117.7:c.11037A>G	ENSP00000360158.3:p.Ser3679=
NM_138694.3:c.11037A>G	NP_619639.3:p.Ser3679=
XM_011514679.1:c.11037A>G	XP_011512981.1:p.Ser3679=
XM_011514680.1:c.11037A>G	XP_011512982.1:p.Ser3679=
XM_011514681.1:c.10908A>G	XP_011512983.1:p.Ser3636=
XM_011514682.1:c.10899A>G	XP_011512984.1:p.Ser3633=
XM_011514683.1:c.10395A>G	XP_011512985.1:p.Ser3465=
XM_011514684.1:c.10326A>G	XP_011512986.1:p.Ser3442=
XM_011514687.1:c.10157-9869A>G	XP_011512989.1:n.10157-9869A>G
XM_011514690.1:c.5112A>G	XP_011512992.1:p.Ser1704=
XM_011514691.1:c.5112A>G	XP_011512993.1:p.Ser1704=
XR_926870.1:n.535+6716T>C
XR_926871.1:n.403+6716T>C
XR_926872.1:n.535+6716T>C
XM_011514680.3:c.11037A>G	XP_011512982.1:p.Ser3679=
XM_011514682.3:c.10899A>G	XP_011512984.1:p.Ser3633=
XM_011514683.3:c.10395A>G	XP_011512985.1:p.Ser3465=
XM_011514684.3:c.10326A>G	XP_011512986.1:p.Ser3442=
XM_011514690.3:c.5112A>G	XP_011512992.1:p.Ser1704=
XM_011514691.3:c.5112A>G	XP_011512993.1:p.Ser1704=
XM_017010944.2:c.11037A>G	XP_016866433.1:p.Ser3679=
XM_017010945.2:c.10962A>G	XP_016866434.1:p.Ser3654=
XM_017010946.2:c.10842A>G	XP_016866435.1:p.Ser3614=
XM_017010947.2:c.10773A>G	XP_016866436.1:p.Ser3591=
XM_017010948.2:c.10326A>G	XP_016866437.1:p.Ser3442=
XM_017010949.2:c.9177A>G	XP_016866438.1:p.Ser3059=
XR_001743469.1:n.11313A>G
XR_001744157.1:n.3145+6716T>C
XR_926870.2:n.3145+6716T>C
XR_926871.2:n.3013+6716T>C
XR_926872.2:n.3145+6716T>C
NM_138694.4:c.11037A>G MANE Select	NP_619639.3:p.Ser3679=