Canonical Allele Identifier: CA1192431808

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727021G= , CM000663.2:g.119727021G=	GRCh38
NC_000001.10:g.120269644G= , CM000663.1:g.120269644G=	GRCh37
NC_000001.9:g.120071167G=	NCBI36
NG_009188.1:g.20226G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.429G=	ENSP00000358417.5:p.Leu143=
ENST00000462324.2:n.512G=
ENST00000641023.2:c.429G= MANE Select	ENSP00000493175.1:p.Leu143=
ENST00000641074.1:c.429G=	ENSP00000493446.1:p.Leu143=
ENST00000641115.1:c.429G=	ENSP00000493264.1:p.Leu143=
ENST00000641213.1:c.*82G=	ENSP00000493079.1:n.*82G=
ENST00000641247.1:c.*148G=	ENSP00000492955.1:n.*148G=
ENST00000641272.1:c.363G=	ENSP00000493432.1:p.Leu121=
ENST00000641314.1:n.414G=
ENST00000641371.1:c.343G=	ENSP00000493305.1:p.Glu115=
ENST00000641375.1:c.*265G=	ENSP00000493089.1:n.*265G=
ENST00000641491.1:c.*82G=	ENSP00000493187.1:n.*82G=
ENST00000641570.1:c.*148G=	ENSP00000493213.1:n.*148G=
ENST00000641573.1:n.517G=
ENST00000641587.1:c.*140G=	ENSP00000493453.1:n.*140G=
ENST00000641597.1:c.429G=	ENSP00000493382.1:p.Leu143=
ENST00000641711.1:n.653G=
ENST00000641756.1:c.*173G=	ENSP00000493147.1:n.*173G=
ENST00000641811.1:c.185G=
ENST00000641847.1:n.288G=
ENST00000641891.1:c.*255G=	ENSP00000493288.1:n.*255G=
ENST00000641927.1:n.369G=
ENST00000641947.1:c.429G=	ENSP00000492994.1:p.Leu143=
ENST00000642021.1:n.551G=
ENST00000642041.1:c.*468G=	ENSP00000493415.1:n.*468G=
ENST00000369407.3:c.327G=	ENSP00000358415.3:p.Leu109=
ENST00000369409.8:c.429G=	ENSP00000358417.4:p.Leu143=
ENST00000462324.1:n.697G=
ENST00000493622.5:n.618G=
NM_006623.3:c.429G=	NP_006614.2:p.Leu143=
XM_011541226.1:c.651G=	XP_011539528.1:p.Leu217=
XM_011541227.1:c.573G=	XP_011539529.1:p.Leu191=
XM_011541228.1:c.540G=	XP_011539530.1:p.Leu180=
XM_011541229.1:c.366G=	XP_011539531.1:p.Leu122=
XM_011541230.1:c.144G=	XP_011539532.1:p.Leu48=
XM_011541231.1:c.135G=	XP_011539533.1:p.Leu45=
XM_011541226.2:c.651G=	XP_011539528.1:p.Leu217=
XM_011541227.2:c.573G=	XP_011539529.1:p.Leu191=
XM_011541228.2:c.540G=	XP_011539530.1:p.Leu180=
XM_011541231.2:c.135G=	XP_011539533.1:p.Leu45=
XM_024446338.1:c.540G=	XP_024302106.1:p.Leu180=
NM_006623.4:c.429G= MANE Select	NP_006614.2:p.Leu143=