Canonical Allele Identifier: CA341847534

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 2113696
• ClinVar RCV Id: RCV003038907
• MyVariant Identifiers: chr1:g.120269475C>T (hg19) ; chr1:g.119726852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726852C>T , CM000663.2:g.119726852C>T	GRCh38
NC_000001.10:g.120269475C>T , CM000663.1:g.120269475C>T	GRCh37
NC_000001.9:g.120070998C>T	NCBI36
NG_009188.1:g.20057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.358C>T	ENSP00000358417.5:p.Gln120Ter
ENST00000462324.2:n.441C>T
ENST00000641023.2:c.358C>T MANE Select	ENSP00000493175.1:p.Gln120Ter
ENST00000641074.1:c.358C>T	ENSP00000493446.1:p.Gln120Ter
ENST00000641115.1:c.358C>T	ENSP00000493264.1:p.Gln120Ter
ENST00000641213.1:c.*11C>T	ENSP00000493079.1:n.*11C>T
ENST00000641247.1:c.*77C>T	ENSP00000492955.1:n.*77C>T
ENST00000641272.1:c.292C>T	ENSP00000493432.1:p.Gln98Ter
ENST00000641314.1:n.343C>T
ENST00000641371.1:c.272C>T	ENSP00000493305.1:p.Ala91Val
ENST00000641375.1:c.*194C>T	ENSP00000493089.1:n.*194C>T
ENST00000641491.1:c.*11C>T	ENSP00000493187.1:n.*11C>T
ENST00000641513.1:c.*102C>T	ENSP00000493398.1:n.*102C>T
ENST00000641570.1:c.*77C>T	ENSP00000493213.1:n.*77C>T
ENST00000641573.1:n.446C>T
ENST00000641587.1:c.*69C>T	ENSP00000493453.1:n.*69C>T
ENST00000641597.1:c.358C>T	ENSP00000493382.1:p.Gln120Ter
ENST00000641711.1:n.582C>T
ENST00000641756.1:c.*102C>T	ENSP00000493147.1:n.*102C>T
ENST00000641811.1:c.114C>T
ENST00000641847.1:n.217C>T
ENST00000641891.1:c.*184C>T	ENSP00000493288.1:n.*184C>T
ENST00000641927.1:n.298C>T
ENST00000641947.1:c.358C>T	ENSP00000492994.1:p.Gln120Ter
ENST00000642021.1:n.480C>T
ENST00000642041.1:c.*397C>T	ENSP00000493415.1:n.*397C>T
ENST00000369407.3:c.256C>T	ENSP00000358415.3:p.Gln86Ter
ENST00000369409.8:c.358C>T	ENSP00000358417.4:p.Gln120Ter
ENST00000462324.1:n.626C>T
ENST00000493622.5:n.547C>T
NM_006623.3:c.358C>T	NP_006614.2:p.Gln120Ter
XM_011541226.1:c.580C>T	XP_011539528.1:p.Gln194Ter
XM_011541227.1:c.502C>T	XP_011539529.1:p.Gln168Ter
XM_011541228.1:c.469C>T	XP_011539530.1:p.Gln157Ter
XM_011541229.1:c.295C>T	XP_011539531.1:p.Gln99Ter
XM_011541230.1:c.73C>T	XP_011539532.1:p.Gln25Ter
XM_011541231.1:c.64C>T	XP_011539533.1:p.Gln22Ter
XM_011541226.2:c.580C>T	XP_011539528.1:p.Gln194Ter
XM_011541227.2:c.502C>T	XP_011539529.1:p.Gln168Ter
XM_011541228.2:c.469C>T	XP_011539530.1:p.Gln157Ter
XM_011541231.2:c.64C>T	XP_011539533.1:p.Gln22Ter
XM_024446338.1:c.469C>T	XP_024302106.1:p.Gln157Ter
NM_006623.4:c.358C>T MANE Select	NP_006614.2:p.Gln120Ter