Canonical Allele Identifier: CA341854294

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1508A>C	ENSP00000358417.5:p.Asp503Ala
ENST00000641023.2:c.1489A>C MANE Select	ENSP00000493175.1:p.Thr497Pro
ENST00000641074.1:c.*68A>C	ENSP00000493446.1:n.*68A>C
ENST00000641115.1:c.1225A>C	ENSP00000493264.1:p.Thr409Pro
ENST00000641213.1:c.*1142A>C	ENSP00000493079.1:n.*1142A>C
ENST00000641314.1:n.1474A>C
ENST00000641375.1:c.*1325A>C	ENSP00000493089.1:n.*1325A>C
ENST00000641597.1:c.1489A>C	ENSP00000493382.1:p.Thr497Pro
ENST00000641756.1:c.*1233A>C	ENSP00000493147.1:n.*1233A>C
ENST00000641811.1:c.743A>C
ENST00000641891.1:c.*1315A>C	ENSP00000493288.1:n.*1315A>C
ENST00000641927.1:n.1429A>C
ENST00000641947.1:c.1468A>C	ENSP00000492994.1:p.Thr490Pro
ENST00000642021.1:n.2520A>C
ENST00000369407.3:c.1387A>C	ENSP00000358415.3:p.Thr463Pro
ENST00000369409.8:c.1489A>C	ENSP00000358417.4:p.Thr497Pro
ENST00000482968.1:n.1468A>C
NM_006623.3:c.1489A>C	NP_006614.2:p.Thr497Pro
XM_011541226.1:c.1711A>C	XP_011539528.1:p.Thr571Pro
XM_011541227.1:c.1633A>C	XP_011539529.1:p.Thr545Pro
XM_011541228.1:c.1600A>C	XP_011539530.1:p.Thr534Pro
XM_011541229.1:c.1426A>C	XP_011539531.1:p.Thr476Pro
XM_011541230.1:c.1204A>C	XP_011539532.1:p.Thr402Pro
XM_011541231.1:c.1195A>C	XP_011539533.1:p.Thr399Pro
XM_011541226.2:c.1711A>C	XP_011539528.1:p.Thr571Pro
XM_011541227.2:c.1633A>C	XP_011539529.1:p.Thr545Pro
XM_011541228.2:c.1600A>C	XP_011539530.1:p.Thr534Pro
XM_011541231.2:c.1195A>C	XP_011539533.1:p.Thr399Pro
XM_024446338.1:c.1600A>C	XP_024302106.1:p.Thr534Pro
NM_006623.4:c.1489A>C MANE Select	NP_006614.2:p.Thr497Pro