Canonical Allele Identifier: CA341847539

Gene: PHGDH

Linked Data

• dbSNP Id: rs774318185
• gnomAD v2: 1-120269477-G-T
• gnomAD v4: 1-119726854-G-T
• MyVariant Identifiers: chr1:g.120269477G>T (hg19) ; chr1:g.119726854G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726854G>T , CM000663.2:g.119726854G>T	GRCh38
NC_000001.10:g.120269477G>T , CM000663.1:g.120269477G>T	GRCh37
NC_000001.9:g.120071000G>T	NCBI36
NG_009188.1:g.20059G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.360G>T	ENSP00000358417.5:p.Gln120His
ENST00000462324.2:n.443G>T
ENST00000641023.2:c.360G>T MANE Select	ENSP00000493175.1:p.Gln120His
ENST00000641074.1:c.360G>T	ENSP00000493446.1:p.Gln120His
ENST00000641115.1:c.360G>T	ENSP00000493264.1:p.Gln120His
ENST00000641213.1:c.*13G>T	ENSP00000493079.1:n.*13G>T
ENST00000641247.1:c.*79G>T	ENSP00000492955.1:n.*79G>T
ENST00000641272.1:c.294G>T	ENSP00000493432.1:p.Gln98His
ENST00000641314.1:n.345G>T
ENST00000641371.1:c.274G>T	ENSP00000493305.1:p.Asp92Tyr
ENST00000641375.1:c.*196G>T	ENSP00000493089.1:n.*196G>T
ENST00000641491.1:c.*13G>T	ENSP00000493187.1:n.*13G>T
ENST00000641513.1:c.*104G>T	ENSP00000493398.1:n.*104G>T
ENST00000641570.1:c.*79G>T	ENSP00000493213.1:n.*79G>T
ENST00000641573.1:n.448G>T
ENST00000641587.1:c.*71G>T	ENSP00000493453.1:n.*71G>T
ENST00000641597.1:c.360G>T	ENSP00000493382.1:p.Gln120His
ENST00000641711.1:n.584G>T
ENST00000641756.1:c.*104G>T	ENSP00000493147.1:n.*104G>T
ENST00000641811.1:c.116G>T
ENST00000641847.1:n.219G>T
ENST00000641891.1:c.*186G>T	ENSP00000493288.1:n.*186G>T
ENST00000641927.1:n.300G>T
ENST00000641947.1:c.360G>T	ENSP00000492994.1:p.Gln120His
ENST00000642021.1:n.482G>T
ENST00000642041.1:c.*399G>T	ENSP00000493415.1:n.*399G>T
ENST00000369407.3:c.258G>T	ENSP00000358415.3:p.Gln86His
ENST00000369409.8:c.360G>T	ENSP00000358417.4:p.Gln120His
ENST00000462324.1:n.628G>T
ENST00000493622.5:n.549G>T
NM_006623.3:c.360G>T	NP_006614.2:p.Gln120His
XM_011541226.1:c.582G>T	XP_011539528.1:p.Gln194His
XM_011541227.1:c.504G>T	XP_011539529.1:p.Gln168His
XM_011541228.1:c.471G>T	XP_011539530.1:p.Gln157His
XM_011541229.1:c.297G>T	XP_011539531.1:p.Gln99His
XM_011541230.1:c.75G>T	XP_011539532.1:p.Gln25His
XM_011541231.1:c.66G>T	XP_011539533.1:p.Gln22His
XM_011541226.2:c.582G>T	XP_011539528.1:p.Gln194His
XM_011541227.2:c.504G>T	XP_011539529.1:p.Gln168His
XM_011541228.2:c.471G>T	XP_011539530.1:p.Gln157His
XM_011541231.2:c.66G>T	XP_011539533.1:p.Gln22His
XM_024446338.1:c.471G>T	XP_024302106.1:p.Gln157His
NM_006623.4:c.360G>T MANE Select	NP_006614.2:p.Gln120His