Canonical Allele Identifier: CA341847674

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269633G>T (hg19) ; chr1:g.119727010G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727010G>T , CM000663.2:g.119727010G>T	GRCh38
NC_000001.10:g.120269633G>T , CM000663.1:g.120269633G>T	GRCh37
NC_000001.9:g.120071156G>T	NCBI36
NG_009188.1:g.20215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.418G>T	ENSP00000358417.5:p.Gly140Ter
ENST00000462324.2:n.501G>T
ENST00000641023.2:c.418G>T MANE Select	ENSP00000493175.1:p.Gly140Ter
ENST00000641074.1:c.418G>T	ENSP00000493446.1:p.Gly140Ter
ENST00000641115.1:c.418G>T	ENSP00000493264.1:p.Gly140Ter
ENST00000641213.1:c.*71G>T	ENSP00000493079.1:n.*71G>T
ENST00000641247.1:c.*137G>T	ENSP00000492955.1:n.*137G>T
ENST00000641272.1:c.352G>T	ENSP00000493432.1:p.Gly118Ter
ENST00000641314.1:n.403G>T
ENST00000641371.1:c.332G>T	ENSP00000493305.1:p.Gly111Val
ENST00000641375.1:c.*254G>T	ENSP00000493089.1:n.*254G>T
ENST00000641491.1:c.*71G>T	ENSP00000493187.1:n.*71G>T
ENST00000641570.1:c.*137G>T	ENSP00000493213.1:n.*137G>T
ENST00000641573.1:n.506G>T
ENST00000641587.1:c.*129G>T	ENSP00000493453.1:n.*129G>T
ENST00000641597.1:c.418G>T	ENSP00000493382.1:p.Gly140Ter
ENST00000641711.1:n.642G>T
ENST00000641756.1:c.*162G>T	ENSP00000493147.1:n.*162G>T
ENST00000641811.1:c.174G>T
ENST00000641847.1:n.277G>T
ENST00000641891.1:c.*244G>T	ENSP00000493288.1:n.*244G>T
ENST00000641927.1:n.358G>T
ENST00000641947.1:c.418G>T	ENSP00000492994.1:p.Gly140Ter
ENST00000642021.1:n.540G>T
ENST00000642041.1:c.*457G>T	ENSP00000493415.1:n.*457G>T
ENST00000369407.3:c.316G>T	ENSP00000358415.3:p.Gly106Ter
ENST00000369409.8:c.418G>T	ENSP00000358417.4:p.Gly140Ter
ENST00000462324.1:n.686G>T
ENST00000493622.5:n.607G>T
NM_006623.3:c.418G>T	NP_006614.2:p.Gly140Ter
XM_011541226.1:c.640G>T	XP_011539528.1:p.Gly214Ter
XM_011541227.1:c.562G>T	XP_011539529.1:p.Gly188Ter
XM_011541228.1:c.529G>T	XP_011539530.1:p.Gly177Ter
XM_011541229.1:c.355G>T	XP_011539531.1:p.Gly119Ter
XM_011541230.1:c.133G>T	XP_011539532.1:p.Gly45Ter
XM_011541231.1:c.124G>T	XP_011539533.1:p.Gly42Ter
XM_011541226.2:c.640G>T	XP_011539528.1:p.Gly214Ter
XM_011541227.2:c.562G>T	XP_011539529.1:p.Gly188Ter
XM_011541228.2:c.529G>T	XP_011539530.1:p.Gly177Ter
XM_011541231.2:c.124G>T	XP_011539533.1:p.Gly42Ter
XM_024446338.1:c.529G>T	XP_024302106.1:p.Gly177Ter
NM_006623.4:c.418G>T MANE Select	NP_006614.2:p.Gly140Ter