Canonical Allele Identifier: CA420012789

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269656C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727033C>A , CM000663.2:g.119727033C>A	GRCh38
NC_000001.10:g.120269656C>A , CM000663.1:g.120269656C>A	GRCh37
NC_000001.9:g.120071179C>A	NCBI36
NG_009188.1:g.20238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.441C>A	ENSP00000358417.5:p.Thr147=
ENST00000462324.2:n.524C>A
ENST00000641023.2:c.441C>A MANE Select	ENSP00000493175.1:p.Thr147=
ENST00000641074.1:c.441C>A	ENSP00000493446.1:p.Thr147=
ENST00000641115.1:c.441C>A	ENSP00000493264.1:p.Thr147=
ENST00000641213.1:c.*94C>A	ENSP00000493079.1:n.*94C>A
ENST00000641247.1:c.*160C>A	ENSP00000492955.1:n.*160C>A
ENST00000641272.1:c.375C>A	ENSP00000493432.1:p.Thr125=
ENST00000641314.1:n.426C>A
ENST00000641371.1:c.355C>A	ENSP00000493305.1:p.Pro119Thr
ENST00000641375.1:c.*277C>A	ENSP00000493089.1:n.*277C>A
ENST00000641491.1:c.*94C>A	ENSP00000493187.1:n.*94C>A
ENST00000641570.1:c.*160C>A	ENSP00000493213.1:n.*160C>A
ENST00000641573.1:n.529C>A
ENST00000641587.1:c.*152C>A	ENSP00000493453.1:n.*152C>A
ENST00000641597.1:c.441C>A	ENSP00000493382.1:p.Thr147=
ENST00000641711.1:n.665C>A
ENST00000641756.1:c.*185C>A	ENSP00000493147.1:n.*185C>A
ENST00000641811.1:c.197C>A
ENST00000641847.1:n.300C>A
ENST00000641891.1:c.*267C>A	ENSP00000493288.1:n.*267C>A
ENST00000641927.1:n.381C>A
ENST00000641947.1:c.441C>A	ENSP00000492994.1:p.Thr147=
ENST00000642021.1:n.563C>A
ENST00000642041.1:c.*480C>A	ENSP00000493415.1:n.*480C>A
ENST00000369407.3:c.339C>A	ENSP00000358415.3:p.Thr113=
ENST00000369409.8:c.441C>A	ENSP00000358417.4:p.Thr147=
ENST00000462324.1:n.709C>A
ENST00000493622.5:n.630C>A
NM_006623.3:c.441C>A	NP_006614.2:p.Thr147=
XM_011541226.1:c.663C>A	XP_011539528.1:p.Thr221=
XM_011541227.1:c.585C>A	XP_011539529.1:p.Thr195=
XM_011541228.1:c.552C>A	XP_011539530.1:p.Thr184=
XM_011541229.1:c.378C>A	XP_011539531.1:p.Thr126=
XM_011541230.1:c.156C>A	XP_011539532.1:p.Thr52=
XM_011541231.1:c.147C>A	XP_011539533.1:p.Thr49=
XM_011541226.2:c.663C>A	XP_011539528.1:p.Thr221=
XM_011541227.2:c.585C>A	XP_011539529.1:p.Thr195=
XM_011541228.2:c.552C>A	XP_011539530.1:p.Thr184=
XM_011541231.2:c.147C>A	XP_011539533.1:p.Thr49=
XM_024446338.1:c.552C>A	XP_024302106.1:p.Thr184=
NM_006623.4:c.441C>A MANE Select	NP_006614.2:p.Thr147=