Canonical Allele Identifier: CA420012921
Gene: PHGDH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120269692G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119727069G>A , CM000663.2:g.119727069G>A GRCh38
NC_000001.10:g.120269692G>A , CM000663.1:g.120269692G>A GRCh37
NC_000001.9:g.120071215G>A NCBI36
NG_009188.1:g.20274G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369409.9:c.477G>A ENSP00000358417.5:p.Glu159=
ENST00000462324.2:n.560G>A
ENST00000641023.2:c.477G>A MANE Select ENSP00000493175.1:p.Glu159=
ENST00000641074.1:c.477G>A ENSP00000493446.1:p.Glu159=
ENST00000641115.1:c.477G>A ENSP00000493264.1:p.Glu159=
ENST00000641213.1:c.*130G>A ENSP00000493079.1:n.*130G>A
ENST00000641247.1:c.*196G>A ENSP00000492955.1:n.*196G>A
ENST00000641272.1:c.411G>A ENSP00000493432.1:p.Glu137=
ENST00000641314.1:n.462G>A
ENST00000641371.1:c.391G>A ENSP00000493305.1:p.Gly131Ser
ENST00000641375.1:c.*313G>A ENSP00000493089.1:n.*313G>A
ENST00000641455.1:n.22G>A
ENST00000641491.1:c.*130G>A ENSP00000493187.1:n.*130G>A
ENST00000641570.1:c.*196G>A ENSP00000493213.1:n.*196G>A
ENST00000641573.1:n.565G>A
ENST00000641587.1:c.*188G>A ENSP00000493453.1:n.*188G>A
ENST00000641597.1:c.477G>A ENSP00000493382.1:p.Glu159=
ENST00000641711.1:n.701G>A
ENST00000641756.1:c.*221G>A ENSP00000493147.1:n.*221G>A
ENST00000641811.1:c.233G>A
ENST00000641847.1:n.336G>A
ENST00000641891.1:c.*303G>A ENSP00000493288.1:n.*303G>A
ENST00000641927.1:n.417G>A
ENST00000641947.1:c.477G>A ENSP00000492994.1:p.Glu159=
ENST00000642021.1:n.599G>A
ENST00000369407.3:c.375G>A ENSP00000358415.3:p.Glu125=
ENST00000369409.8:c.477G>A ENSP00000358417.4:p.Glu159=
ENST00000462324.1:n.745G>A
ENST00000493622.5:n.666G>A
NM_006623.3:c.477G>A NP_006614.2:p.Glu159=
XM_011541226.1:c.699G>A XP_011539528.1:p.Glu233=
XM_011541227.1:c.621G>A XP_011539529.1:p.Glu207=
XM_011541228.1:c.588G>A XP_011539530.1:p.Glu196=
XM_011541229.1:c.414G>A XP_011539531.1:p.Glu138=
XM_011541230.1:c.192G>A XP_011539532.1:p.Glu64=
XM_011541231.1:c.183G>A XP_011539533.1:p.Glu61=
XM_011541226.2:c.699G>A XP_011539528.1:p.Glu233=
XM_011541227.2:c.621G>A XP_011539529.1:p.Glu207=
XM_011541228.2:c.588G>A XP_011539530.1:p.Glu196=
XM_011541231.2:c.183G>A XP_011539533.1:p.Glu61=
XM_024446338.1:c.588G>A XP_024302106.1:p.Glu196=
NM_006623.4:c.477G>A MANE Select NP_006614.2:p.Glu159=