Canonical Allele Identifier: CA116478
Gene: PHGDH HGNC NCBI

Linked Data

ClinVar Variation Id: 3870
dbSNP Id: rs267606949

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119726897C>T , CM000663.2:g.119726897C>T GRCh38
NC_000001.10:g.120269520C>T , CM000663.1:g.120269520C>T GRCh37
NC_000001.9:g.120071043C>T NCBI36
NG_009188.1:g.20102C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369409.9:c.403C>T ENSP00000358417.5:p.Arg135Trp
ENST00000462324.2:n.486C>T
ENST00000641023.2:c.403C>T MANE Select ENSP00000493175.1:p.Arg135Trp
ENST00000641074.1:c.403C>T ENSP00000493446.1:p.Arg135Trp
ENST00000641115.1:c.403C>T ENSP00000493264.1:p.Arg135Trp
ENST00000641213.1:c.*56C>T ENSP00000493079.1:n.*56C>T
ENST00000641247.1:c.*122C>T ENSP00000492955.1:n.*122C>T
ENST00000641272.1:c.337C>T ENSP00000493432.1:p.Arg113Trp
ENST00000641314.1:n.388C>T
ENST00000641371.1:c.317C>T ENSP00000493305.1:p.Ala106Val
ENST00000641375.1:c.*239C>T ENSP00000493089.1:n.*239C>T
ENST00000641491.1:c.*56C>T ENSP00000493187.1:n.*56C>T
ENST00000641513.1:c.*147C>T ENSP00000493398.1:n.*147C>T
ENST00000641570.1:c.*122C>T ENSP00000493213.1:n.*122C>T
ENST00000641573.1:n.491C>T
ENST00000641587.1:c.*114C>T ENSP00000493453.1:n.*114C>T
ENST00000641597.1:c.403C>T ENSP00000493382.1:p.Arg135Trp
ENST00000641711.1:n.627C>T
ENST00000641756.1:c.*147C>T ENSP00000493147.1:n.*147C>T
ENST00000641811.1:c.159C>T
ENST00000641847.1:n.262C>T
ENST00000641891.1:c.*229C>T ENSP00000493288.1:n.*229C>T
ENST00000641927.1:n.343C>T
ENST00000641947.1:c.403C>T ENSP00000492994.1:p.Arg135Trp
ENST00000642021.1:n.525C>T
ENST00000642041.1:c.*442C>T ENSP00000493415.1:n.*442C>T
ENST00000369407.3:c.301C>T ENSP00000358415.3:p.Arg101Trp
ENST00000369409.8:c.403C>T ENSP00000358417.4:p.Arg135Trp
ENST00000462324.1:n.671C>T
ENST00000493622.5:n.592C>T
NM_006623.3:c.403C>T NP_006614.2:p.Arg135Trp
XM_011541226.1:c.625C>T XP_011539528.1:p.Arg209Trp
XM_011541227.1:c.547C>T XP_011539529.1:p.Arg183Trp
XM_011541228.1:c.514C>T XP_011539530.1:p.Arg172Trp
XM_011541229.1:c.340C>T XP_011539531.1:p.Arg114Trp
XM_011541230.1:c.118C>T XP_011539532.1:p.Arg40Trp
XM_011541231.1:c.109C>T XP_011539533.1:p.Arg37Trp
XM_011541226.2:c.625C>T XP_011539528.1:p.Arg209Trp
XM_011541227.2:c.547C>T XP_011539529.1:p.Arg183Trp
XM_011541228.2:c.514C>T XP_011539530.1:p.Arg172Trp
XM_011541231.2:c.109C>T XP_011539533.1:p.Arg37Trp
XM_024446338.1:c.514C>T XP_024302106.1:p.Arg172Trp
NM_006623.4:c.403C>T MANE Select NP_006614.2:p.Arg135Trp