Canonical Allele Identifier: CA420012759

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269522G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726899G>A , CM000663.2:g.119726899G>A	GRCh38
NC_000001.10:g.120269522G>A , CM000663.1:g.120269522G>A	GRCh37
NC_000001.9:g.120071045G>A	NCBI36
NG_009188.1:g.20104G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.405G>A	ENSP00000358417.5:p.Arg135=
ENST00000462324.2:n.488G>A
ENST00000641023.2:c.405G>A MANE Select	ENSP00000493175.1:p.Arg135=
ENST00000641074.1:c.405G>A	ENSP00000493446.1:p.Arg135=
ENST00000641115.1:c.405G>A	ENSP00000493264.1:p.Arg135=
ENST00000641213.1:c.*58G>A	ENSP00000493079.1:n.*58G>A
ENST00000641247.1:c.*124G>A	ENSP00000492955.1:n.*124G>A
ENST00000641272.1:c.339G>A	ENSP00000493432.1:p.Arg113=
ENST00000641314.1:n.390G>A
ENST00000641371.1:c.319G>A	ENSP00000493305.1:p.Glu107Lys
ENST00000641375.1:c.*241G>A	ENSP00000493089.1:n.*241G>A
ENST00000641491.1:c.*58G>A	ENSP00000493187.1:n.*58G>A
ENST00000641513.1:c.*149G>A	ENSP00000493398.1:n.*149G>A
ENST00000641570.1:c.*124G>A	ENSP00000493213.1:n.*124G>A
ENST00000641573.1:n.493G>A
ENST00000641587.1:c.*116G>A	ENSP00000493453.1:n.*116G>A
ENST00000641597.1:c.405G>A	ENSP00000493382.1:p.Arg135=
ENST00000641711.1:n.629G>A
ENST00000641756.1:c.*149G>A	ENSP00000493147.1:n.*149G>A
ENST00000641811.1:c.161G>A
ENST00000641847.1:n.264G>A
ENST00000641891.1:c.*231G>A	ENSP00000493288.1:n.*231G>A
ENST00000641927.1:n.345G>A
ENST00000641947.1:c.405G>A	ENSP00000492994.1:p.Arg135=
ENST00000642021.1:n.527G>A
ENST00000642041.1:c.*444G>A	ENSP00000493415.1:n.*444G>A
ENST00000369407.3:c.303G>A	ENSP00000358415.3:p.Arg101=
ENST00000369409.8:c.405G>A	ENSP00000358417.4:p.Arg135=
ENST00000462324.1:n.673G>A
ENST00000493622.5:n.594G>A
NM_006623.3:c.405G>A	NP_006614.2:p.Arg135=
XM_011541226.1:c.627G>A	XP_011539528.1:p.Arg209=
XM_011541227.1:c.549G>A	XP_011539529.1:p.Arg183=
XM_011541228.1:c.516G>A	XP_011539530.1:p.Arg172=
XM_011541229.1:c.342G>A	XP_011539531.1:p.Arg114=
XM_011541230.1:c.120G>A	XP_011539532.1:p.Arg40=
XM_011541231.1:c.111G>A	XP_011539533.1:p.Arg37=
XM_011541226.2:c.627G>A	XP_011539528.1:p.Arg209=
XM_011541227.2:c.549G>A	XP_011539529.1:p.Arg183=
XM_011541228.2:c.516G>A	XP_011539530.1:p.Arg172=
XM_011541231.2:c.111G>A	XP_011539533.1:p.Arg37=
XM_024446338.1:c.516G>A	XP_024302106.1:p.Arg172=
NM_006623.4:c.405G>A MANE Select	NP_006614.2:p.Arg135=