Canonical Allele Identifier: CA341847625

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269518A>G (hg19) ; chr1:g.119726895A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726895A>G , CM000663.2:g.119726895A>G	GRCh38
NC_000001.10:g.120269518A>G , CM000663.1:g.120269518A>G	GRCh37
NC_000001.9:g.120071041A>G	NCBI36
NG_009188.1:g.20100A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.401A>G	ENSP00000358417.5:p.Glu134Gly
ENST00000462324.2:n.484A>G
ENST00000641023.2:c.401A>G MANE Select	ENSP00000493175.1:p.Glu134Gly
ENST00000641074.1:c.401A>G	ENSP00000493446.1:p.Glu134Gly
ENST00000641115.1:c.401A>G	ENSP00000493264.1:p.Glu134Gly
ENST00000641213.1:c.*54A>G	ENSP00000493079.1:n.*54A>G
ENST00000641247.1:c.*120A>G	ENSP00000492955.1:n.*120A>G
ENST00000641272.1:c.335A>G	ENSP00000493432.1:p.Glu112Gly
ENST00000641314.1:n.386A>G
ENST00000641371.1:c.315A>G	ENSP00000493305.1:p.Gly105=
ENST00000641375.1:c.*237A>G	ENSP00000493089.1:n.*237A>G
ENST00000641491.1:c.*54A>G	ENSP00000493187.1:n.*54A>G
ENST00000641513.1:c.*145A>G	ENSP00000493398.1:n.*145A>G
ENST00000641570.1:c.*120A>G	ENSP00000493213.1:n.*120A>G
ENST00000641573.1:n.489A>G
ENST00000641587.1:c.*112A>G	ENSP00000493453.1:n.*112A>G
ENST00000641597.1:c.401A>G	ENSP00000493382.1:p.Glu134Gly
ENST00000641711.1:n.625A>G
ENST00000641756.1:c.*145A>G	ENSP00000493147.1:n.*145A>G
ENST00000641811.1:c.157A>G
ENST00000641847.1:n.260A>G
ENST00000641891.1:c.*227A>G	ENSP00000493288.1:n.*227A>G
ENST00000641927.1:n.341A>G
ENST00000641947.1:c.401A>G	ENSP00000492994.1:p.Glu134Gly
ENST00000642021.1:n.523A>G
ENST00000642041.1:c.*440A>G	ENSP00000493415.1:n.*440A>G
ENST00000369407.3:c.299A>G	ENSP00000358415.3:p.Glu100Gly
ENST00000369409.8:c.401A>G	ENSP00000358417.4:p.Glu134Gly
ENST00000462324.1:n.669A>G
ENST00000493622.5:n.590A>G
NM_006623.3:c.401A>G	NP_006614.2:p.Glu134Gly
XM_011541226.1:c.623A>G	XP_011539528.1:p.Glu208Gly
XM_011541227.1:c.545A>G	XP_011539529.1:p.Glu182Gly
XM_011541228.1:c.512A>G	XP_011539530.1:p.Glu171Gly
XM_011541229.1:c.338A>G	XP_011539531.1:p.Glu113Gly
XM_011541230.1:c.116A>G	XP_011539532.1:p.Glu39Gly
XM_011541231.1:c.107A>G	XP_011539533.1:p.Glu36Gly
XM_011541226.2:c.623A>G	XP_011539528.1:p.Glu208Gly
XM_011541227.2:c.545A>G	XP_011539529.1:p.Glu182Gly
XM_011541228.2:c.512A>G	XP_011539530.1:p.Glu171Gly
XM_011541231.2:c.107A>G	XP_011539533.1:p.Glu36Gly
XM_024446338.1:c.512A>G	XP_024302106.1:p.Glu171Gly
NM_006623.4:c.401A>G MANE Select	NP_006614.2:p.Glu134Gly