Canonical Allele Identifier: CA116480
Gene: PHGDH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119735432G>A , CM000663.2:g.119735432G>A GRCh38
NC_000001.10:g.120278055G>A , CM000663.1:g.120278055G>A GRCh37
NC_000001.9:g.120079578G>A NCBI36
NG_009188.1:g.28637G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369409.9:c.781G>A ENSP00000358417.5:p.Val261Met
ENST00000469443.2:n.601G>A
ENST00000641023.2:c.781G>A MANE Select ENSP00000493175.1:p.Val261Met
ENST00000641074.1:c.781G>A ENSP00000493446.1:p.Val261Met
ENST00000641115.1:c.781G>A ENSP00000493264.1:p.Val261Met
ENST00000641213.1:c.*434G>A ENSP00000493079.1:n.*434G>A
ENST00000641272.1:c.715G>A ENSP00000493432.1:p.Val239Met
ENST00000641314.1:n.766G>A
ENST00000641375.1:c.*617G>A ENSP00000493089.1:n.*617G>A
ENST00000641597.1:c.781G>A ENSP00000493382.1:p.Val261Met
ENST00000641756.1:c.*525G>A ENSP00000493147.1:n.*525G>A
ENST00000641811.1:c.537G>A
ENST00000641891.1:c.*607G>A ENSP00000493288.1:n.*607G>A
ENST00000641927.1:n.721G>A
ENST00000641947.1:c.781G>A ENSP00000492994.1:p.Val261Met
ENST00000642021.1:n.903G>A
ENST00000369407.3:c.679G>A ENSP00000358415.3:p.Val227Met
ENST00000369409.8:c.781G>A ENSP00000358417.4:p.Val261Met
NM_006623.3:c.781G>A NP_006614.2:p.Val261Met
XM_011541226.1:c.1003G>A XP_011539528.1:p.Val335Met
XM_011541227.1:c.925G>A XP_011539529.1:p.Val309Met
XM_011541228.1:c.892G>A XP_011539530.1:p.Val298Met
XM_011541229.1:c.718G>A XP_011539531.1:p.Val240Met
XM_011541230.1:c.496G>A XP_011539532.1:p.Val166Met
XM_011541231.1:c.487G>A XP_011539533.1:p.Val163Met
XM_011541226.2:c.1003G>A XP_011539528.1:p.Val335Met
XM_011541227.2:c.925G>A XP_011539529.1:p.Val309Met
XM_011541228.2:c.892G>A XP_011539530.1:p.Val298Met
XM_011541231.2:c.487G>A XP_011539533.1:p.Val163Met
XM_024446338.1:c.892G>A XP_024302106.1:p.Val298Met
NM_006623.4:c.781G>A MANE Select NP_006614.2:p.Val261Met
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