Canonical Allele Identifier: CA341847604

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269509G>C (hg19) ; chr1:g.119726886G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726886G>C , CM000663.2:g.119726886G>C	GRCh38
NC_000001.10:g.120269509G>C , CM000663.1:g.120269509G>C	GRCh37
NC_000001.9:g.120071032G>C	NCBI36
NG_009188.1:g.20091G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.392G>C	ENSP00000358417.5:p.Gly131Ala
ENST00000462324.2:n.475G>C
ENST00000641023.2:c.392G>C MANE Select	ENSP00000493175.1:p.Gly131Ala
ENST00000641074.1:c.392G>C	ENSP00000493446.1:p.Gly131Ala
ENST00000641115.1:c.392G>C	ENSP00000493264.1:p.Gly131Ala
ENST00000641213.1:c.*45G>C	ENSP00000493079.1:n.*45G>C
ENST00000641247.1:c.*111G>C	ENSP00000492955.1:n.*111G>C
ENST00000641272.1:c.326G>C	ENSP00000493432.1:p.Gly109Ala
ENST00000641314.1:n.377G>C
ENST00000641371.1:c.306G>C	ENSP00000493305.1:p.Arg102=
ENST00000641375.1:c.*228G>C	ENSP00000493089.1:n.*228G>C
ENST00000641491.1:c.*45G>C	ENSP00000493187.1:n.*45G>C
ENST00000641513.1:c.*136G>C	ENSP00000493398.1:n.*136G>C
ENST00000641570.1:c.*111G>C	ENSP00000493213.1:n.*111G>C
ENST00000641573.1:n.480G>C
ENST00000641587.1:c.*103G>C	ENSP00000493453.1:n.*103G>C
ENST00000641597.1:c.392G>C	ENSP00000493382.1:p.Gly131Ala
ENST00000641711.1:n.616G>C
ENST00000641756.1:c.*136G>C	ENSP00000493147.1:n.*136G>C
ENST00000641811.1:c.148G>C
ENST00000641847.1:n.251G>C
ENST00000641891.1:c.*218G>C	ENSP00000493288.1:n.*218G>C
ENST00000641927.1:n.332G>C
ENST00000641947.1:c.392G>C	ENSP00000492994.1:p.Gly131Ala
ENST00000642021.1:n.514G>C
ENST00000642041.1:c.*431G>C	ENSP00000493415.1:n.*431G>C
ENST00000369407.3:c.290G>C	ENSP00000358415.3:p.Gly97Ala
ENST00000369409.8:c.392G>C	ENSP00000358417.4:p.Gly131Ala
ENST00000462324.1:n.660G>C
ENST00000493622.5:n.581G>C
NM_006623.3:c.392G>C	NP_006614.2:p.Gly131Ala
XM_011541226.1:c.614G>C	XP_011539528.1:p.Gly205Ala
XM_011541227.1:c.536G>C	XP_011539529.1:p.Gly179Ala
XM_011541228.1:c.503G>C	XP_011539530.1:p.Gly168Ala
XM_011541229.1:c.329G>C	XP_011539531.1:p.Gly110Ala
XM_011541230.1:c.107G>C	XP_011539532.1:p.Gly36Ala
XM_011541231.1:c.98G>C	XP_011539533.1:p.Gly33Ala
XM_011541226.2:c.614G>C	XP_011539528.1:p.Gly205Ala
XM_011541227.2:c.536G>C	XP_011539529.1:p.Gly179Ala
XM_011541228.2:c.503G>C	XP_011539530.1:p.Gly168Ala
XM_011541231.2:c.98G>C	XP_011539533.1:p.Gly33Ala
XM_024446338.1:c.503G>C	XP_024302106.1:p.Gly168Ala
NM_006623.4:c.392G>C MANE Select	NP_006614.2:p.Gly131Ala