Canonical Allele Identifier: CA420012755

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269510C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726887C>T , CM000663.2:g.119726887C>T	GRCh38
NC_000001.10:g.120269510C>T , CM000663.1:g.120269510C>T	GRCh37
NC_000001.9:g.120071033C>T	NCBI36
NG_009188.1:g.20092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.393C>T	ENSP00000358417.5:p.Gly131=
ENST00000462324.2:n.476C>T
ENST00000641023.2:c.393C>T MANE Select	ENSP00000493175.1:p.Gly131=
ENST00000641074.1:c.393C>T	ENSP00000493446.1:p.Gly131=
ENST00000641115.1:c.393C>T	ENSP00000493264.1:p.Gly131=
ENST00000641213.1:c.*46C>T	ENSP00000493079.1:n.*46C>T
ENST00000641247.1:c.*112C>T	ENSP00000492955.1:n.*112C>T
ENST00000641272.1:c.327C>T	ENSP00000493432.1:p.Gly109=
ENST00000641314.1:n.378C>T
ENST00000641371.1:c.307C>T	ENSP00000493305.1:p.Gln103Ter
ENST00000641375.1:c.*229C>T	ENSP00000493089.1:n.*229C>T
ENST00000641491.1:c.*46C>T	ENSP00000493187.1:n.*46C>T
ENST00000641513.1:c.*137C>T	ENSP00000493398.1:n.*137C>T
ENST00000641570.1:c.*112C>T	ENSP00000493213.1:n.*112C>T
ENST00000641573.1:n.481C>T
ENST00000641587.1:c.*104C>T	ENSP00000493453.1:n.*104C>T
ENST00000641597.1:c.393C>T	ENSP00000493382.1:p.Gly131=
ENST00000641711.1:n.617C>T
ENST00000641756.1:c.*137C>T	ENSP00000493147.1:n.*137C>T
ENST00000641811.1:c.149C>T
ENST00000641847.1:n.252C>T
ENST00000641891.1:c.*219C>T	ENSP00000493288.1:n.*219C>T
ENST00000641927.1:n.333C>T
ENST00000641947.1:c.393C>T	ENSP00000492994.1:p.Gly131=
ENST00000642021.1:n.515C>T
ENST00000642041.1:c.*432C>T	ENSP00000493415.1:n.*432C>T
ENST00000369407.3:c.291C>T	ENSP00000358415.3:p.Gly97=
ENST00000369409.8:c.393C>T	ENSP00000358417.4:p.Gly131=
ENST00000462324.1:n.661C>T
ENST00000493622.5:n.582C>T
NM_006623.3:c.393C>T	NP_006614.2:p.Gly131=
XM_011541226.1:c.615C>T	XP_011539528.1:p.Gly205=
XM_011541227.1:c.537C>T	XP_011539529.1:p.Gly179=
XM_011541228.1:c.504C>T	XP_011539530.1:p.Gly168=
XM_011541229.1:c.330C>T	XP_011539531.1:p.Gly110=
XM_011541230.1:c.108C>T	XP_011539532.1:p.Gly36=
XM_011541231.1:c.99C>T	XP_011539533.1:p.Gly33=
XM_011541226.2:c.615C>T	XP_011539528.1:p.Gly205=
XM_011541227.2:c.537C>T	XP_011539529.1:p.Gly179=
XM_011541228.2:c.504C>T	XP_011539530.1:p.Gly168=
XM_011541231.2:c.99C>T	XP_011539533.1:p.Gly33=
XM_024446338.1:c.504C>T	XP_024302106.1:p.Gly168=
NM_006623.4:c.393C>T MANE Select	NP_006614.2:p.Gly131=