Canonical Allele Identifier: CA341854311

Gene: PHGDH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1509C>T	ENSP00000358417.5:p.Asp503=
ENST00000641023.2:c.1490C>T MANE Select	ENSP00000493175.1:p.Thr497Ile
ENST00000641074.1:c.*69C>T	ENSP00000493446.1:n.*69C>T
ENST00000641115.1:c.1226C>T	ENSP00000493264.1:p.Thr409Ile
ENST00000641213.1:c.*1143C>T	ENSP00000493079.1:n.*1143C>T
ENST00000641314.1:n.1475C>T
ENST00000641375.1:c.*1326C>T	ENSP00000493089.1:n.*1326C>T
ENST00000641597.1:c.1490C>T	ENSP00000493382.1:p.Thr497Ile
ENST00000641756.1:c.*1234C>T	ENSP00000493147.1:n.*1234C>T
ENST00000641811.1:c.744C>T
ENST00000641891.1:c.*1316C>T	ENSP00000493288.1:n.*1316C>T
ENST00000641927.1:n.1430C>T
ENST00000641947.1:c.1469C>T	ENSP00000492994.1:p.Thr490Ile
ENST00000642021.1:n.2521C>T
ENST00000369407.3:c.1388C>T	ENSP00000358415.3:p.Thr463Ile
ENST00000369409.8:c.1490C>T	ENSP00000358417.4:p.Thr497Ile
ENST00000482968.1:n.1469C>T
NM_006623.3:c.1490C>T	NP_006614.2:p.Thr497Ile
XM_011541226.1:c.1712C>T	XP_011539528.1:p.Thr571Ile
XM_011541227.1:c.1634C>T	XP_011539529.1:p.Thr545Ile
XM_011541228.1:c.1601C>T	XP_011539530.1:p.Thr534Ile
XM_011541229.1:c.1427C>T	XP_011539531.1:p.Thr476Ile
XM_011541230.1:c.1205C>T	XP_011539532.1:p.Thr402Ile
XM_011541231.1:c.1196C>T	XP_011539533.1:p.Thr399Ile
XM_011541226.2:c.1712C>T	XP_011539528.1:p.Thr571Ile
XM_011541227.2:c.1634C>T	XP_011539529.1:p.Thr545Ile
XM_011541228.2:c.1601C>T	XP_011539530.1:p.Thr534Ile
XM_011541231.2:c.1196C>T	XP_011539533.1:p.Thr399Ile
XM_024446338.1:c.1601C>T	XP_024302106.1:p.Thr534Ile
NM_006623.4:c.1490C>T MANE Select	NP_006614.2:p.Thr497Ile