Canonical Allele Identifier: CA30250345

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269686G>T (hg19) ; chr1:g.119727063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727063G>T , CM000663.2:g.119727063G>T	GRCh38
NC_000001.10:g.120269686G>T , CM000663.1:g.120269686G>T	GRCh37
NC_000001.9:g.120071209G>T	NCBI36
NG_009188.1:g.20268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.471G>T	ENSP00000358417.5:p.Gly157=
ENST00000462324.2:n.554G>T
ENST00000641023.2:c.471G>T MANE Select	ENSP00000493175.1:p.Gly157=
ENST00000641074.1:c.471G>T	ENSP00000493446.1:p.Gly157=
ENST00000641115.1:c.471G>T	ENSP00000493264.1:p.Gly157=
ENST00000641213.1:c.*124G>T	ENSP00000493079.1:n.*124G>T
ENST00000641247.1:c.*190G>T	ENSP00000492955.1:n.*190G>T
ENST00000641272.1:c.405G>T	ENSP00000493432.1:p.Gly135=
ENST00000641314.1:n.456G>T
ENST00000641371.1:c.385G>T	ENSP00000493305.1:p.Glu129Ter
ENST00000641375.1:c.*307G>T	ENSP00000493089.1:n.*307G>T
ENST00000641455.1:n.16G>T
ENST00000641491.1:c.*124G>T	ENSP00000493187.1:n.*124G>T
ENST00000641570.1:c.*190G>T	ENSP00000493213.1:n.*190G>T
ENST00000641573.1:n.559G>T
ENST00000641587.1:c.*182G>T	ENSP00000493453.1:n.*182G>T
ENST00000641597.1:c.471G>T	ENSP00000493382.1:p.Gly157=
ENST00000641711.1:n.695G>T
ENST00000641756.1:c.*215G>T	ENSP00000493147.1:n.*215G>T
ENST00000641811.1:c.227G>T
ENST00000641847.1:n.330G>T
ENST00000641891.1:c.*297G>T	ENSP00000493288.1:n.*297G>T
ENST00000641927.1:n.411G>T
ENST00000641947.1:c.471G>T	ENSP00000492994.1:p.Gly157=
ENST00000642021.1:n.593G>T
ENST00000642041.1:c.*510G>T	ENSP00000493415.1:n.*510G>T
ENST00000369407.3:c.369G>T	ENSP00000358415.3:p.Gly123=
ENST00000369409.8:c.471G>T	ENSP00000358417.4:p.Gly157=
ENST00000462324.1:n.739G>T
ENST00000493622.5:n.660G>T
NM_006623.3:c.471G>T	NP_006614.2:p.Gly157=
XM_011541226.1:c.693G>T	XP_011539528.1:p.Gly231=
XM_011541227.1:c.615G>T	XP_011539529.1:p.Gly205=
XM_011541228.1:c.582G>T	XP_011539530.1:p.Gly194=
XM_011541229.1:c.408G>T	XP_011539531.1:p.Gly136=
XM_011541230.1:c.186G>T	XP_011539532.1:p.Gly62=
XM_011541231.1:c.177G>T	XP_011539533.1:p.Gly59=
XM_011541226.2:c.693G>T	XP_011539528.1:p.Gly231=
XM_011541227.2:c.615G>T	XP_011539529.1:p.Gly205=
XM_011541228.2:c.582G>T	XP_011539530.1:p.Gly194=
XM_011541231.2:c.177G>T	XP_011539533.1:p.Gly59=
XM_024446338.1:c.582G>T	XP_024302106.1:p.Gly194=
NM_006623.4:c.471G>T MANE Select	NP_006614.2:p.Gly157=