Canonical Allele Identifier: CA1037106

Gene: PHGDH

Linked Data

• dbSNP Id: rs766892752
• ExAC: 1:120269660 G / A
• gnomAD v2: 1-120269660-G-A
• MyVariant Identifiers: chr1:g.120269660G>A (hg19) ; chr1:g.119727037G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727037G>A , CM000663.2:g.119727037G>A	GRCh38
NC_000001.10:g.120269660G>A , CM000663.1:g.120269660G>A	GRCh37
NC_000001.9:g.120071183G>A	NCBI36
NG_009188.1:g.20242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.445G>A	ENSP00000358417.5:p.Gly149Arg
ENST00000462324.2:n.528G>A
ENST00000641023.2:c.445G>A MANE Select	ENSP00000493175.1:p.Gly149Arg
ENST00000641074.1:c.445G>A	ENSP00000493446.1:p.Gly149Arg
ENST00000641115.1:c.445G>A	ENSP00000493264.1:p.Gly149Arg
ENST00000641213.1:c.*98G>A	ENSP00000493079.1:n.*98G>A
ENST00000641247.1:c.*164G>A	ENSP00000492955.1:n.*164G>A
ENST00000641272.1:c.379G>A	ENSP00000493432.1:p.Gly127Arg
ENST00000641314.1:n.430G>A
ENST00000641371.1:c.359G>A	ENSP00000493305.1:p.Gly120Glu
ENST00000641375.1:c.*281G>A	ENSP00000493089.1:n.*281G>A
ENST00000641491.1:c.*98G>A	ENSP00000493187.1:n.*98G>A
ENST00000641570.1:c.*164G>A	ENSP00000493213.1:n.*164G>A
ENST00000641573.1:n.533G>A
ENST00000641587.1:c.*156G>A	ENSP00000493453.1:n.*156G>A
ENST00000641597.1:c.445G>A	ENSP00000493382.1:p.Gly149Arg
ENST00000641711.1:n.669G>A
ENST00000641756.1:c.*189G>A	ENSP00000493147.1:n.*189G>A
ENST00000641811.1:c.201G>A
ENST00000641847.1:n.304G>A
ENST00000641891.1:c.*271G>A	ENSP00000493288.1:n.*271G>A
ENST00000641927.1:n.385G>A
ENST00000641947.1:c.445G>A	ENSP00000492994.1:p.Gly149Arg
ENST00000642021.1:n.567G>A
ENST00000642041.1:c.*484G>A	ENSP00000493415.1:n.*484G>A
ENST00000369407.3:c.343G>A	ENSP00000358415.3:p.Gly115Arg
ENST00000369409.8:c.445G>A	ENSP00000358417.4:p.Gly149Arg
ENST00000462324.1:n.713G>A
ENST00000493622.5:n.634G>A
NM_006623.3:c.445G>A	NP_006614.2:p.Gly149Arg
XM_011541226.1:c.667G>A	XP_011539528.1:p.Gly223Arg
XM_011541227.1:c.589G>A	XP_011539529.1:p.Gly197Arg
XM_011541228.1:c.556G>A	XP_011539530.1:p.Gly186Arg
XM_011541229.1:c.382G>A	XP_011539531.1:p.Gly128Arg
XM_011541230.1:c.160G>A	XP_011539532.1:p.Gly54Arg
XM_011541231.1:c.151G>A	XP_011539533.1:p.Gly51Arg
XM_011541226.2:c.667G>A	XP_011539528.1:p.Gly223Arg
XM_011541227.2:c.589G>A	XP_011539529.1:p.Gly197Arg
XM_011541228.2:c.556G>A	XP_011539530.1:p.Gly186Arg
XM_011541231.2:c.151G>A	XP_011539533.1:p.Gly51Arg
XM_024446338.1:c.556G>A	XP_024302106.1:p.Gly186Arg
NM_006623.4:c.445G>A MANE Select	NP_006614.2:p.Gly149Arg