Canonical Allele Identifier: CA341854307
Gene: PHGDH HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119743928C>A , CM000663.2:g.119743928C>A GRCh38
NC_000001.10:g.120286551C>A , CM000663.1:g.120286551C>A GRCh37
NC_000001.9:g.120088074C>A NCBI36
NG_009188.1:g.37133C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369409.9:c.1509C>A ENSP00000358417.5:p.Asp503Glu
ENST00000641023.2:c.1490C>A MANE Select ENSP00000493175.1:p.Thr497Asn
ENST00000641074.1:c.*69C>A ENSP00000493446.1:n.*69C>A
ENST00000641115.1:c.1226C>A ENSP00000493264.1:p.Thr409Asn
ENST00000641213.1:c.*1143C>A ENSP00000493079.1:n.*1143C>A
ENST00000641314.1:n.1475C>A
ENST00000641375.1:c.*1326C>A ENSP00000493089.1:n.*1326C>A
ENST00000641597.1:c.1490C>A ENSP00000493382.1:p.Thr497Asn
ENST00000641756.1:c.*1234C>A ENSP00000493147.1:n.*1234C>A
ENST00000641811.1:c.744C>A
ENST00000641891.1:c.*1316C>A ENSP00000493288.1:n.*1316C>A
ENST00000641927.1:n.1430C>A
ENST00000641947.1:c.1469C>A ENSP00000492994.1:p.Thr490Asn
ENST00000642021.1:n.2521C>A
ENST00000369407.3:c.1388C>A ENSP00000358415.3:p.Thr463Asn
ENST00000369409.8:c.1490C>A ENSP00000358417.4:p.Thr497Asn
ENST00000482968.1:n.1469C>A
NM_006623.3:c.1490C>A NP_006614.2:p.Thr497Asn
XM_011541226.1:c.1712C>A XP_011539528.1:p.Thr571Asn
XM_011541227.1:c.1634C>A XP_011539529.1:p.Thr545Asn
XM_011541228.1:c.1601C>A XP_011539530.1:p.Thr534Asn
XM_011541229.1:c.1427C>A XP_011539531.1:p.Thr476Asn
XM_011541230.1:c.1205C>A XP_011539532.1:p.Thr402Asn
XM_011541231.1:c.1196C>A XP_011539533.1:p.Thr399Asn
XM_011541226.2:c.1712C>A XP_011539528.1:p.Thr571Asn
XM_011541227.2:c.1634C>A XP_011539529.1:p.Thr545Asn
XM_011541228.2:c.1601C>A XP_011539530.1:p.Thr534Asn
XM_011541231.2:c.1196C>A XP_011539533.1:p.Thr399Asn
XM_024446338.1:c.1601C>A XP_024302106.1:p.Thr534Asn
NM_006623.4:c.1490C>A MANE Select NP_006614.2:p.Thr497Asn