Canonical Allele Identifier: CA341854316

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743930T>A , CM000663.2:g.119743930T>A	GRCh38
NC_000001.10:g.120286553T>A , CM000663.1:g.120286553T>A	GRCh37
NC_000001.9:g.120088076T>A	NCBI36
NG_009188.1:g.37135T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1511T>A	ENSP00000358417.5:p.Phe504Tyr
ENST00000641023.2:c.1492T>A MANE Select	ENSP00000493175.1:p.Ser498Thr
ENST00000641074.1:c.*71T>A	ENSP00000493446.1:n.*71T>A
ENST00000641115.1:c.1228T>A	ENSP00000493264.1:p.Ser410Thr
ENST00000641213.1:c.*1145T>A	ENSP00000493079.1:n.*1145T>A
ENST00000641314.1:n.1477T>A
ENST00000641375.1:c.*1328T>A	ENSP00000493089.1:n.*1328T>A
ENST00000641597.1:c.1492T>A	ENSP00000493382.1:p.Ser498Thr
ENST00000641756.1:c.*1236T>A	ENSP00000493147.1:n.*1236T>A
ENST00000641811.1:c.746T>A
ENST00000641891.1:c.*1318T>A	ENSP00000493288.1:n.*1318T>A
ENST00000641927.1:n.1432T>A
ENST00000641947.1:c.1471T>A	ENSP00000492994.1:p.Ser491Thr
ENST00000642021.1:n.2523T>A
ENST00000369407.3:c.1390T>A	ENSP00000358415.3:p.Ser464Thr
ENST00000369409.8:c.1492T>A	ENSP00000358417.4:p.Ser498Thr
ENST00000482968.1:n.1471T>A
NM_006623.3:c.1492T>A	NP_006614.2:p.Ser498Thr
XM_011541226.1:c.1714T>A	XP_011539528.1:p.Ser572Thr
XM_011541227.1:c.1636T>A	XP_011539529.1:p.Ser546Thr
XM_011541228.1:c.1603T>A	XP_011539530.1:p.Ser535Thr
XM_011541229.1:c.1429T>A	XP_011539531.1:p.Ser477Thr
XM_011541230.1:c.1207T>A	XP_011539532.1:p.Ser403Thr
XM_011541231.1:c.1198T>A	XP_011539533.1:p.Ser400Thr
XM_011541226.2:c.1714T>A	XP_011539528.1:p.Ser572Thr
XM_011541227.2:c.1636T>A	XP_011539529.1:p.Ser546Thr
XM_011541228.2:c.1603T>A	XP_011539530.1:p.Ser535Thr
XM_011541231.2:c.1198T>A	XP_011539533.1:p.Ser400Thr
XM_024446338.1:c.1603T>A	XP_024302106.1:p.Ser535Thr
NM_006623.4:c.1492T>A MANE Select	NP_006614.2:p.Ser498Thr