Canonical Allele Identifier: CA341847570

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269493G>T (hg19) ; chr1:g.119726870G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726870G>T , CM000663.2:g.119726870G>T	GRCh38
NC_000001.10:g.120269493G>T , CM000663.1:g.120269493G>T	GRCh37
NC_000001.9:g.120071016G>T	NCBI36
NG_009188.1:g.20075G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.376G>T	ENSP00000358417.5:p.Ala126Ser
ENST00000462324.2:n.459G>T
ENST00000641023.2:c.376G>T MANE Select	ENSP00000493175.1:p.Ala126Ser
ENST00000641074.1:c.376G>T	ENSP00000493446.1:p.Ala126Ser
ENST00000641115.1:c.376G>T	ENSP00000493264.1:p.Ala126Ser
ENST00000641213.1:c.*29G>T	ENSP00000493079.1:n.*29G>T
ENST00000641247.1:c.*95G>T	ENSP00000492955.1:n.*95G>T
ENST00000641272.1:c.310G>T	ENSP00000493432.1:p.Ala104Ser
ENST00000641314.1:n.361G>T
ENST00000641371.1:c.290G>T	ENSP00000493305.1:p.Gly97Val
ENST00000641375.1:c.*212G>T	ENSP00000493089.1:n.*212G>T
ENST00000641491.1:c.*29G>T	ENSP00000493187.1:n.*29G>T
ENST00000641513.1:c.*120G>T	ENSP00000493398.1:n.*120G>T
ENST00000641570.1:c.*95G>T	ENSP00000493213.1:n.*95G>T
ENST00000641573.1:n.464G>T
ENST00000641587.1:c.*87G>T	ENSP00000493453.1:n.*87G>T
ENST00000641597.1:c.376G>T	ENSP00000493382.1:p.Ala126Ser
ENST00000641711.1:n.600G>T
ENST00000641756.1:c.*120G>T	ENSP00000493147.1:n.*120G>T
ENST00000641811.1:c.132G>T
ENST00000641847.1:n.235G>T
ENST00000641891.1:c.*202G>T	ENSP00000493288.1:n.*202G>T
ENST00000641927.1:n.316G>T
ENST00000641947.1:c.376G>T	ENSP00000492994.1:p.Ala126Ser
ENST00000642021.1:n.498G>T
ENST00000642041.1:c.*415G>T	ENSP00000493415.1:n.*415G>T
ENST00000369407.3:c.274G>T	ENSP00000358415.3:p.Ala92Ser
ENST00000369409.8:c.376G>T	ENSP00000358417.4:p.Ala126Ser
ENST00000462324.1:n.644G>T
ENST00000493622.5:n.565G>T
NM_006623.3:c.376G>T	NP_006614.2:p.Ala126Ser
XM_011541226.1:c.598G>T	XP_011539528.1:p.Ala200Ser
XM_011541227.1:c.520G>T	XP_011539529.1:p.Ala174Ser
XM_011541228.1:c.487G>T	XP_011539530.1:p.Ala163Ser
XM_011541229.1:c.313G>T	XP_011539531.1:p.Ala105Ser
XM_011541230.1:c.91G>T	XP_011539532.1:p.Ala31Ser
XM_011541231.1:c.82G>T	XP_011539533.1:p.Ala28Ser
XM_011541226.2:c.598G>T	XP_011539528.1:p.Ala200Ser
XM_011541227.2:c.520G>T	XP_011539529.1:p.Ala174Ser
XM_011541228.2:c.487G>T	XP_011539530.1:p.Ala163Ser
XM_011541231.2:c.82G>T	XP_011539533.1:p.Ala28Ser
XM_024446338.1:c.487G>T	XP_024302106.1:p.Ala163Ser
NM_006623.4:c.376G>T MANE Select	NP_006614.2:p.Ala126Ser