Canonical Allele Identifier: CA420013713

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279752C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737129C>A , CM000663.2:g.119737129C>A	GRCh38
NC_000001.10:g.120279752C>A , CM000663.1:g.120279752C>A	GRCh37
NC_000001.9:g.120081275C>A	NCBI36
NG_009188.1:g.30334C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.808C>A	ENSP00000358417.5:p.Arg270=
ENST00000469443.2:n.628C>A
ENST00000641023.2:c.808C>A MANE Select	ENSP00000493175.1:p.Arg270=
ENST00000641074.1:c.808C>A	ENSP00000493446.1:p.Arg270=
ENST00000641115.1:c.808C>A	ENSP00000493264.1:p.Arg270=
ENST00000641213.1:c.*461C>A	ENSP00000493079.1:n.*461C>A
ENST00000641314.1:n.793C>A
ENST00000641375.1:c.*644C>A	ENSP00000493089.1:n.*644C>A
ENST00000641597.1:c.808C>A	ENSP00000493382.1:p.Arg270=
ENST00000641756.1:c.*552C>A	ENSP00000493147.1:n.*552C>A
ENST00000641811.1:c.564C>A
ENST00000641891.1:c.*634C>A	ENSP00000493288.1:n.*634C>A
ENST00000641927.1:n.748C>A
ENST00000641947.1:c.808C>A	ENSP00000492994.1:p.Arg270=
ENST00000642021.1:n.930C>A
ENST00000369407.3:c.706C>A	ENSP00000358415.3:p.Arg236=
ENST00000369409.8:c.808C>A	ENSP00000358417.4:p.Arg270=
NM_006623.3:c.808C>A	NP_006614.2:p.Arg270=
XM_011541226.1:c.1030C>A	XP_011539528.1:p.Arg344=
XM_011541227.1:c.952C>A	XP_011539529.1:p.Arg318=
XM_011541228.1:c.919C>A	XP_011539530.1:p.Arg307=
XM_011541229.1:c.745C>A	XP_011539531.1:p.Arg249=
XM_011541230.1:c.523C>A	XP_011539532.1:p.Arg175=
XM_011541231.1:c.514C>A	XP_011539533.1:p.Arg172=
XM_011541226.2:c.1030C>A	XP_011539528.1:p.Arg344=
XM_011541227.2:c.952C>A	XP_011539529.1:p.Arg318=
XM_011541228.2:c.919C>A	XP_011539530.1:p.Arg307=
XM_011541231.2:c.514C>A	XP_011539533.1:p.Arg172=
XM_024446338.1:c.919C>A	XP_024302106.1:p.Arg307=
NM_006623.4:c.808C>A MANE Select	NP_006614.2:p.Arg270=