Canonical Allele Identifier: CA341854198
Gene: PHGDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119743910G>C , CM000663.2:g.119743910G>C GRCh38
NC_000001.10:g.120286533G>C , CM000663.1:g.120286533G>C GRCh37
NC_000001.9:g.120088056G>C NCBI36
NG_009188.1:g.37115G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369409.9:c.1491G>C ENSP00000358417.5:p.Ala497=
ENST00000641023.2:c.1472G>C MANE Select ENSP00000493175.1:p.Arg491Pro
ENST00000641074.1:c.*51G>C ENSP00000493446.1:n.*51G>C
ENST00000641115.1:c.1208G>C ENSP00000493264.1:p.Arg403Pro
ENST00000641213.1:c.*1125G>C ENSP00000493079.1:n.*1125G>C
ENST00000641314.1:n.1457G>C
ENST00000641375.1:c.*1308G>C ENSP00000493089.1:n.*1308G>C
ENST00000641597.1:c.1472G>C ENSP00000493382.1:p.Arg491Pro
ENST00000641756.1:c.*1216G>C ENSP00000493147.1:n.*1216G>C
ENST00000641811.1:c.726G>C
ENST00000641891.1:c.*1298G>C ENSP00000493288.1:n.*1298G>C
ENST00000641927.1:n.1412G>C
ENST00000641947.1:c.1451G>C ENSP00000492994.1:p.Arg484Pro
ENST00000642021.1:n.2503G>C
ENST00000369407.3:c.1370G>C ENSP00000358415.3:p.Arg457Pro
ENST00000369409.8:c.1472G>C ENSP00000358417.4:p.Arg491Pro
ENST00000482968.1:n.1451G>C
NM_006623.3:c.1472G>C NP_006614.2:p.Arg491Pro
XM_011541226.1:c.1694G>C XP_011539528.1:p.Arg565Pro
XM_011541227.1:c.1616G>C XP_011539529.1:p.Arg539Pro
XM_011541228.1:c.1583G>C XP_011539530.1:p.Arg528Pro
XM_011541229.1:c.1409G>C XP_011539531.1:p.Arg470Pro
XM_011541230.1:c.1187G>C XP_011539532.1:p.Arg396Pro
XM_011541231.1:c.1178G>C XP_011539533.1:p.Arg393Pro
XM_011541226.2:c.1694G>C XP_011539528.1:p.Arg565Pro
XM_011541227.2:c.1616G>C XP_011539529.1:p.Arg539Pro
XM_011541228.2:c.1583G>C XP_011539530.1:p.Arg528Pro
XM_011541231.2:c.1178G>C XP_011539533.1:p.Arg393Pro
XM_024446338.1:c.1583G>C XP_024302106.1:p.Arg528Pro
NM_006623.4:c.1472G>C MANE Select NP_006614.2:p.Arg491Pro