Canonical Allele Identifier: CA341847602

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119726885-G-T
• MyVariant Identifiers: chr1:g.120269508G>T (hg19) ; chr1:g.119726885G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726885G>T , CM000663.2:g.119726885G>T	GRCh38
NC_000001.10:g.120269508G>T , CM000663.1:g.120269508G>T	GRCh37
NC_000001.9:g.120071031G>T	NCBI36
NG_009188.1:g.20090G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.391G>T	ENSP00000358417.5:p.Gly131Cys
ENST00000462324.2:n.474G>T
ENST00000641023.2:c.391G>T MANE Select	ENSP00000493175.1:p.Gly131Cys
ENST00000641074.1:c.391G>T	ENSP00000493446.1:p.Gly131Cys
ENST00000641115.1:c.391G>T	ENSP00000493264.1:p.Gly131Cys
ENST00000641213.1:c.*44G>T	ENSP00000493079.1:n.*44G>T
ENST00000641247.1:c.*110G>T	ENSP00000492955.1:n.*110G>T
ENST00000641272.1:c.325G>T	ENSP00000493432.1:p.Gly109Cys
ENST00000641314.1:n.376G>T
ENST00000641371.1:c.305G>T	ENSP00000493305.1:p.Arg102Leu
ENST00000641375.1:c.*227G>T	ENSP00000493089.1:n.*227G>T
ENST00000641491.1:c.*44G>T	ENSP00000493187.1:n.*44G>T
ENST00000641513.1:c.*135G>T	ENSP00000493398.1:n.*135G>T
ENST00000641570.1:c.*110G>T	ENSP00000493213.1:n.*110G>T
ENST00000641573.1:n.479G>T
ENST00000641587.1:c.*102G>T	ENSP00000493453.1:n.*102G>T
ENST00000641597.1:c.391G>T	ENSP00000493382.1:p.Gly131Cys
ENST00000641711.1:n.615G>T
ENST00000641756.1:c.*135G>T	ENSP00000493147.1:n.*135G>T
ENST00000641811.1:c.147G>T
ENST00000641847.1:n.250G>T
ENST00000641891.1:c.*217G>T	ENSP00000493288.1:n.*217G>T
ENST00000641927.1:n.331G>T
ENST00000641947.1:c.391G>T	ENSP00000492994.1:p.Gly131Cys
ENST00000642021.1:n.513G>T
ENST00000642041.1:c.*430G>T	ENSP00000493415.1:n.*430G>T
ENST00000369407.3:c.289G>T	ENSP00000358415.3:p.Gly97Cys
ENST00000369409.8:c.391G>T	ENSP00000358417.4:p.Gly131Cys
ENST00000462324.1:n.659G>T
ENST00000493622.5:n.580G>T
NM_006623.3:c.391G>T	NP_006614.2:p.Gly131Cys
XM_011541226.1:c.613G>T	XP_011539528.1:p.Gly205Cys
XM_011541227.1:c.535G>T	XP_011539529.1:p.Gly179Cys
XM_011541228.1:c.502G>T	XP_011539530.1:p.Gly168Cys
XM_011541229.1:c.328G>T	XP_011539531.1:p.Gly110Cys
XM_011541230.1:c.106G>T	XP_011539532.1:p.Gly36Cys
XM_011541231.1:c.97G>T	XP_011539533.1:p.Gly33Cys
XM_011541226.2:c.613G>T	XP_011539528.1:p.Gly205Cys
XM_011541227.2:c.535G>T	XP_011539529.1:p.Gly179Cys
XM_011541228.2:c.502G>T	XP_011539530.1:p.Gly168Cys
XM_011541231.2:c.97G>T	XP_011539533.1:p.Gly33Cys
XM_024446338.1:c.502G>T	XP_024302106.1:p.Gly168Cys
NM_006623.4:c.391G>T MANE Select	NP_006614.2:p.Gly131Cys