Canonical Allele Identifier: CA420013045
Gene: PHGDH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120269713C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119727090C>G , CM000663.2:g.119727090C>G GRCh38
NC_000001.10:g.120269713C>G , CM000663.1:g.120269713C>G GRCh37
NC_000001.9:g.120071236C>G NCBI36
NG_009188.1:g.20295C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369409.9:c.498C>G ENSP00000358417.5:p.Ser166=
ENST00000462324.2:n.581C>G
ENST00000641023.2:c.498C>G MANE Select ENSP00000493175.1:p.Ser166=
ENST00000641074.1:c.498C>G ENSP00000493446.1:p.Ser166=
ENST00000641115.1:c.498C>G ENSP00000493264.1:p.Ser166=
ENST00000641213.1:c.*151C>G ENSP00000493079.1:n.*151C>G
ENST00000641247.1:c.*217C>G ENSP00000492955.1:n.*217C>G
ENST00000641272.1:c.432C>G ENSP00000493432.1:p.Ser144=
ENST00000641314.1:n.483C>G
ENST00000641371.1:c.412C>G ENSP00000493305.1:p.Leu138Val
ENST00000641375.1:c.*334C>G ENSP00000493089.1:n.*334C>G
ENST00000641455.1:n.43C>G
ENST00000641491.1:c.*151C>G ENSP00000493187.1:n.*151C>G
ENST00000641570.1:c.*217C>G ENSP00000493213.1:n.*217C>G
ENST00000641573.1:n.586C>G
ENST00000641587.1:c.*209C>G ENSP00000493453.1:n.*209C>G
ENST00000641597.1:c.498C>G ENSP00000493382.1:p.Ser166=
ENST00000641756.1:c.*242C>G ENSP00000493147.1:n.*242C>G
ENST00000641811.1:c.254C>G
ENST00000641847.1:n.357C>G
ENST00000641891.1:c.*324C>G ENSP00000493288.1:n.*324C>G
ENST00000641927.1:n.438C>G
ENST00000641947.1:c.498C>G ENSP00000492994.1:p.Ser166=
ENST00000642021.1:n.620C>G
ENST00000369407.3:c.396C>G ENSP00000358415.3:p.Ser132=
ENST00000369409.8:c.498C>G ENSP00000358417.4:p.Ser166=
ENST00000462324.1:n.766C>G
ENST00000493622.5:n.687C>G
NM_006623.3:c.498C>G NP_006614.2:p.Ser166=
XM_011541226.1:c.720C>G XP_011539528.1:p.Ser240=
XM_011541227.1:c.642C>G XP_011539529.1:p.Ser214=
XM_011541228.1:c.609C>G XP_011539530.1:p.Ser203=
XM_011541229.1:c.435C>G XP_011539531.1:p.Ser145=
XM_011541230.1:c.213C>G XP_011539532.1:p.Ser71=
XM_011541231.1:c.204C>G XP_011539533.1:p.Ser68=
XM_011541226.2:c.720C>G XP_011539528.1:p.Ser240=
XM_011541227.2:c.642C>G XP_011539529.1:p.Ser214=
XM_011541228.2:c.609C>G XP_011539530.1:p.Ser203=
XM_011541231.2:c.204C>G XP_011539533.1:p.Ser68=
XM_024446338.1:c.609C>G XP_024302106.1:p.Ser203=
NM_006623.4:c.498C>G MANE Select NP_006614.2:p.Ser166=