Canonical Allele Identifier: CA341847751

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269670G>T (hg19) ; chr1:g.119727047G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727047G>T , CM000663.2:g.119727047G>T	GRCh38
NC_000001.10:g.120269670G>T , CM000663.1:g.120269670G>T	GRCh37
NC_000001.9:g.120071193G>T	NCBI36
NG_009188.1:g.20252G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.455G>T	ENSP00000358417.5:p.Gly152Val
ENST00000462324.2:n.538G>T
ENST00000641023.2:c.455G>T MANE Select	ENSP00000493175.1:p.Gly152Val
ENST00000641074.1:c.455G>T	ENSP00000493446.1:p.Gly152Val
ENST00000641115.1:c.455G>T	ENSP00000493264.1:p.Gly152Val
ENST00000641213.1:c.*108G>T	ENSP00000493079.1:n.*108G>T
ENST00000641247.1:c.*174G>T	ENSP00000492955.1:n.*174G>T
ENST00000641272.1:c.389G>T	ENSP00000493432.1:p.Gly130Val
ENST00000641314.1:n.440G>T
ENST00000641371.1:c.369G>T	ENSP00000493305.1:p.Trp123Cys
ENST00000641375.1:c.*291G>T	ENSP00000493089.1:n.*291G>T
ENST00000641491.1:c.*108G>T	ENSP00000493187.1:n.*108G>T
ENST00000641570.1:c.*174G>T	ENSP00000493213.1:n.*174G>T
ENST00000641573.1:n.543G>T
ENST00000641587.1:c.*166G>T	ENSP00000493453.1:n.*166G>T
ENST00000641597.1:c.455G>T	ENSP00000493382.1:p.Gly152Val
ENST00000641711.1:n.679G>T
ENST00000641756.1:c.*199G>T	ENSP00000493147.1:n.*199G>T
ENST00000641811.1:c.211G>T
ENST00000641847.1:n.314G>T
ENST00000641891.1:c.*281G>T	ENSP00000493288.1:n.*281G>T
ENST00000641927.1:n.395G>T
ENST00000641947.1:c.455G>T	ENSP00000492994.1:p.Gly152Val
ENST00000642021.1:n.577G>T
ENST00000642041.1:c.*494G>T	ENSP00000493415.1:n.*494G>T
ENST00000369407.3:c.353G>T	ENSP00000358415.3:p.Gly118Val
ENST00000369409.8:c.455G>T	ENSP00000358417.4:p.Gly152Val
ENST00000462324.1:n.723G>T
ENST00000493622.5:n.644G>T
NM_006623.3:c.455G>T	NP_006614.2:p.Gly152Val
XM_011541226.1:c.677G>T	XP_011539528.1:p.Gly226Val
XM_011541227.1:c.599G>T	XP_011539529.1:p.Gly200Val
XM_011541228.1:c.566G>T	XP_011539530.1:p.Gly189Val
XM_011541229.1:c.392G>T	XP_011539531.1:p.Gly131Val
XM_011541230.1:c.170G>T	XP_011539532.1:p.Gly57Val
XM_011541231.1:c.161G>T	XP_011539533.1:p.Gly54Val
XM_011541226.2:c.677G>T	XP_011539528.1:p.Gly226Val
XM_011541227.2:c.599G>T	XP_011539529.1:p.Gly200Val
XM_011541228.2:c.566G>T	XP_011539530.1:p.Gly189Val
XM_011541231.2:c.161G>T	XP_011539533.1:p.Gly54Val
XM_024446338.1:c.566G>T	XP_024302106.1:p.Gly189Val
NM_006623.4:c.455G>T MANE Select	NP_006614.2:p.Gly152Val