Canonical Allele Identifier: CA420012758

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269519G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726896G>A , CM000663.2:g.119726896G>A	GRCh38
NC_000001.10:g.120269519G>A , CM000663.1:g.120269519G>A	GRCh37
NC_000001.9:g.120071042G>A	NCBI36
NG_009188.1:g.20101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.402G>A	ENSP00000358417.5:p.Glu134=
ENST00000462324.2:n.485G>A
ENST00000641023.2:c.402G>A MANE Select	ENSP00000493175.1:p.Glu134=
ENST00000641074.1:c.402G>A	ENSP00000493446.1:p.Glu134=
ENST00000641115.1:c.402G>A	ENSP00000493264.1:p.Glu134=
ENST00000641213.1:c.*55G>A	ENSP00000493079.1:n.*55G>A
ENST00000641247.1:c.*121G>A	ENSP00000492955.1:n.*121G>A
ENST00000641272.1:c.336G>A	ENSP00000493432.1:p.Glu112=
ENST00000641314.1:n.387G>A
ENST00000641371.1:c.316G>A	ENSP00000493305.1:p.Ala106Thr
ENST00000641375.1:c.*238G>A	ENSP00000493089.1:n.*238G>A
ENST00000641491.1:c.*55G>A	ENSP00000493187.1:n.*55G>A
ENST00000641513.1:c.*146G>A	ENSP00000493398.1:n.*146G>A
ENST00000641570.1:c.*121G>A	ENSP00000493213.1:n.*121G>A
ENST00000641573.1:n.490G>A
ENST00000641587.1:c.*113G>A	ENSP00000493453.1:n.*113G>A
ENST00000641597.1:c.402G>A	ENSP00000493382.1:p.Glu134=
ENST00000641711.1:n.626G>A
ENST00000641756.1:c.*146G>A	ENSP00000493147.1:n.*146G>A
ENST00000641811.1:c.158G>A
ENST00000641847.1:n.261G>A
ENST00000641891.1:c.*228G>A	ENSP00000493288.1:n.*228G>A
ENST00000641927.1:n.342G>A
ENST00000641947.1:c.402G>A	ENSP00000492994.1:p.Glu134=
ENST00000642021.1:n.524G>A
ENST00000642041.1:c.*441G>A	ENSP00000493415.1:n.*441G>A
ENST00000369407.3:c.300G>A	ENSP00000358415.3:p.Glu100=
ENST00000369409.8:c.402G>A	ENSP00000358417.4:p.Glu134=
ENST00000462324.1:n.670G>A
ENST00000493622.5:n.591G>A
NM_006623.3:c.402G>A	NP_006614.2:p.Glu134=
XM_011541226.1:c.624G>A	XP_011539528.1:p.Glu208=
XM_011541227.1:c.546G>A	XP_011539529.1:p.Glu182=
XM_011541228.1:c.513G>A	XP_011539530.1:p.Glu171=
XM_011541229.1:c.339G>A	XP_011539531.1:p.Glu113=
XM_011541230.1:c.117G>A	XP_011539532.1:p.Glu39=
XM_011541231.1:c.108G>A	XP_011539533.1:p.Glu36=
XM_011541226.2:c.624G>A	XP_011539528.1:p.Glu208=
XM_011541227.2:c.546G>A	XP_011539529.1:p.Glu182=
XM_011541228.2:c.513G>A	XP_011539530.1:p.Glu171=
XM_011541231.2:c.108G>A	XP_011539533.1:p.Glu36=
XM_024446338.1:c.513G>A	XP_024302106.1:p.Glu171=
NM_006623.4:c.402G>A MANE Select	NP_006614.2:p.Glu134=