Canonical Allele Identifier: CA341854299

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743927A>G , CM000663.2:g.119743927A>G	GRCh38
NC_000001.10:g.120286550A>G , CM000663.1:g.120286550A>G	GRCh37
NC_000001.9:g.120088073A>G	NCBI36
NG_009188.1:g.37132A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1508A>G	ENSP00000358417.5:p.Asp503Gly
ENST00000641023.2:c.1489A>G MANE Select	ENSP00000493175.1:p.Thr497Ala
ENST00000641074.1:c.*68A>G	ENSP00000493446.1:n.*68A>G
ENST00000641115.1:c.1225A>G	ENSP00000493264.1:p.Thr409Ala
ENST00000641213.1:c.*1142A>G	ENSP00000493079.1:n.*1142A>G
ENST00000641314.1:n.1474A>G
ENST00000641375.1:c.*1325A>G	ENSP00000493089.1:n.*1325A>G
ENST00000641597.1:c.1489A>G	ENSP00000493382.1:p.Thr497Ala
ENST00000641756.1:c.*1233A>G	ENSP00000493147.1:n.*1233A>G
ENST00000641811.1:c.743A>G
ENST00000641891.1:c.*1315A>G	ENSP00000493288.1:n.*1315A>G
ENST00000641927.1:n.1429A>G
ENST00000641947.1:c.1468A>G	ENSP00000492994.1:p.Thr490Ala
ENST00000642021.1:n.2520A>G
ENST00000369407.3:c.1387A>G	ENSP00000358415.3:p.Thr463Ala
ENST00000369409.8:c.1489A>G	ENSP00000358417.4:p.Thr497Ala
ENST00000482968.1:n.1468A>G
NM_006623.3:c.1489A>G	NP_006614.2:p.Thr497Ala
XM_011541226.1:c.1711A>G	XP_011539528.1:p.Thr571Ala
XM_011541227.1:c.1633A>G	XP_011539529.1:p.Thr545Ala
XM_011541228.1:c.1600A>G	XP_011539530.1:p.Thr534Ala
XM_011541229.1:c.1426A>G	XP_011539531.1:p.Thr476Ala
XM_011541230.1:c.1204A>G	XP_011539532.1:p.Thr402Ala
XM_011541231.1:c.1195A>G	XP_011539533.1:p.Thr399Ala
XM_011541226.2:c.1711A>G	XP_011539528.1:p.Thr571Ala
XM_011541227.2:c.1633A>G	XP_011539529.1:p.Thr545Ala
XM_011541228.2:c.1600A>G	XP_011539530.1:p.Thr534Ala
XM_011541231.2:c.1195A>G	XP_011539533.1:p.Thr399Ala
XM_024446338.1:c.1600A>G	XP_024302106.1:p.Thr534Ala
NM_006623.4:c.1489A>G MANE Select	NP_006614.2:p.Thr497Ala