Canonical Allele Identifier: CA420012825

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269674G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727051G>T , CM000663.2:g.119727051G>T	GRCh38
NC_000001.10:g.120269674G>T , CM000663.1:g.120269674G>T	GRCh37
NC_000001.9:g.120071197G>T	NCBI36
NG_009188.1:g.20256G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.459G>T	ENSP00000358417.5:p.Leu153=
ENST00000462324.2:n.542G>T
ENST00000641023.2:c.459G>T MANE Select	ENSP00000493175.1:p.Leu153=
ENST00000641074.1:c.459G>T	ENSP00000493446.1:p.Leu153=
ENST00000641115.1:c.459G>T	ENSP00000493264.1:p.Leu153=
ENST00000641213.1:c.*112G>T	ENSP00000493079.1:n.*112G>T
ENST00000641247.1:c.*178G>T	ENSP00000492955.1:n.*178G>T
ENST00000641272.1:c.393G>T	ENSP00000493432.1:p.Leu131=
ENST00000641314.1:n.444G>T
ENST00000641371.1:c.373G>T	ENSP00000493305.1:p.Gly125Trp
ENST00000641375.1:c.*295G>T	ENSP00000493089.1:n.*295G>T
ENST00000641455.1:n.4G>T
ENST00000641491.1:c.*112G>T	ENSP00000493187.1:n.*112G>T
ENST00000641570.1:c.*178G>T	ENSP00000493213.1:n.*178G>T
ENST00000641573.1:n.547G>T
ENST00000641587.1:c.*170G>T	ENSP00000493453.1:n.*170G>T
ENST00000641597.1:c.459G>T	ENSP00000493382.1:p.Leu153=
ENST00000641711.1:n.683G>T
ENST00000641756.1:c.*203G>T	ENSP00000493147.1:n.*203G>T
ENST00000641811.1:c.215G>T
ENST00000641847.1:n.318G>T
ENST00000641891.1:c.*285G>T	ENSP00000493288.1:n.*285G>T
ENST00000641927.1:n.399G>T
ENST00000641947.1:c.459G>T	ENSP00000492994.1:p.Leu153=
ENST00000642021.1:n.581G>T
ENST00000642041.1:c.*498G>T	ENSP00000493415.1:n.*498G>T
ENST00000369407.3:c.357G>T	ENSP00000358415.3:p.Leu119=
ENST00000369409.8:c.459G>T	ENSP00000358417.4:p.Leu153=
ENST00000462324.1:n.727G>T
ENST00000493622.5:n.648G>T
NM_006623.3:c.459G>T	NP_006614.2:p.Leu153=
XM_011541226.1:c.681G>T	XP_011539528.1:p.Leu227=
XM_011541227.1:c.603G>T	XP_011539529.1:p.Leu201=
XM_011541228.1:c.570G>T	XP_011539530.1:p.Leu190=
XM_011541229.1:c.396G>T	XP_011539531.1:p.Leu132=
XM_011541230.1:c.174G>T	XP_011539532.1:p.Leu58=
XM_011541231.1:c.165G>T	XP_011539533.1:p.Leu55=
XM_011541226.2:c.681G>T	XP_011539528.1:p.Leu227=
XM_011541227.2:c.603G>T	XP_011539529.1:p.Leu201=
XM_011541228.2:c.570G>T	XP_011539530.1:p.Leu190=
XM_011541231.2:c.165G>T	XP_011539533.1:p.Leu55=
XM_024446338.1:c.570G>T	XP_024302106.1:p.Leu190=
NM_006623.4:c.459G>T MANE Select	NP_006614.2:p.Leu153=