Canonical Allele Identifier: CA341847806

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269699A>G (hg19) ; chr1:g.119727076A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727076A>G , CM000663.2:g.119727076A>G	GRCh38
NC_000001.10:g.120269699A>G , CM000663.1:g.120269699A>G	GRCh37
NC_000001.9:g.120071222A>G	NCBI36
NG_009188.1:g.20281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.484A>G	ENSP00000358417.5:p.Thr162Ala
ENST00000462324.2:n.567A>G
ENST00000641023.2:c.484A>G MANE Select	ENSP00000493175.1:p.Thr162Ala
ENST00000641074.1:c.484A>G	ENSP00000493446.1:p.Thr162Ala
ENST00000641115.1:c.484A>G	ENSP00000493264.1:p.Thr162Ala
ENST00000641213.1:c.*137A>G	ENSP00000493079.1:n.*137A>G
ENST00000641247.1:c.*203A>G	ENSP00000492955.1:n.*203A>G
ENST00000641272.1:c.418A>G	ENSP00000493432.1:p.Thr140Ala
ENST00000641314.1:n.469A>G
ENST00000641371.1:c.398A>G	ENSP00000493305.1:p.Tyr133Cys
ENST00000641375.1:c.*320A>G	ENSP00000493089.1:n.*320A>G
ENST00000641455.1:n.29A>G
ENST00000641491.1:c.*137A>G	ENSP00000493187.1:n.*137A>G
ENST00000641570.1:c.*203A>G	ENSP00000493213.1:n.*203A>G
ENST00000641573.1:n.572A>G
ENST00000641587.1:c.*195A>G	ENSP00000493453.1:n.*195A>G
ENST00000641597.1:c.484A>G	ENSP00000493382.1:p.Thr162Ala
ENST00000641711.1:n.708A>G
ENST00000641756.1:c.*228A>G	ENSP00000493147.1:n.*228A>G
ENST00000641811.1:c.240A>G
ENST00000641847.1:n.343A>G
ENST00000641891.1:c.*310A>G	ENSP00000493288.1:n.*310A>G
ENST00000641927.1:n.424A>G
ENST00000641947.1:c.484A>G	ENSP00000492994.1:p.Thr162Ala
ENST00000642021.1:n.606A>G
ENST00000369407.3:c.382A>G	ENSP00000358415.3:p.Thr128Ala
ENST00000369409.8:c.484A>G	ENSP00000358417.4:p.Thr162Ala
ENST00000462324.1:n.752A>G
ENST00000493622.5:n.673A>G
NM_006623.3:c.484A>G	NP_006614.2:p.Thr162Ala
XM_011541226.1:c.706A>G	XP_011539528.1:p.Thr236Ala
XM_011541227.1:c.628A>G	XP_011539529.1:p.Thr210Ala
XM_011541228.1:c.595A>G	XP_011539530.1:p.Thr199Ala
XM_011541229.1:c.421A>G	XP_011539531.1:p.Thr141Ala
XM_011541230.1:c.199A>G	XP_011539532.1:p.Thr67Ala
XM_011541231.1:c.190A>G	XP_011539533.1:p.Thr64Ala
XM_011541226.2:c.706A>G	XP_011539528.1:p.Thr236Ala
XM_011541227.2:c.628A>G	XP_011539529.1:p.Thr210Ala
XM_011541228.2:c.595A>G	XP_011539530.1:p.Thr199Ala
XM_011541231.2:c.190A>G	XP_011539533.1:p.Thr64Ala
XM_024446338.1:c.595A>G	XP_024302106.1:p.Thr199Ala
NM_006623.4:c.484A>G MANE Select	NP_006614.2:p.Thr162Ala