Canonical Allele Identifier: CA420013669

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 2001308
• ClinVar RCV Id: RCV002815311
• MyVariant Identifiers: chr1:g.120279739G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737116G>A , CM000663.2:g.119737116G>A	GRCh38
NC_000001.10:g.120279739G>A , CM000663.1:g.120279739G>A	GRCh37
NC_000001.9:g.120081262G>A	NCBI36
NG_009188.1:g.30321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.795G>A	ENSP00000358417.5:p.Glu265=
ENST00000469443.2:n.615G>A
ENST00000641023.2:c.795G>A MANE Select	ENSP00000493175.1:p.Glu265=
ENST00000641074.1:c.795G>A	ENSP00000493446.1:p.Glu265=
ENST00000641115.1:c.795G>A	ENSP00000493264.1:p.Glu265=
ENST00000641213.1:c.*448G>A	ENSP00000493079.1:n.*448G>A
ENST00000641314.1:n.780G>A
ENST00000641375.1:c.*631G>A	ENSP00000493089.1:n.*631G>A
ENST00000641597.1:c.795G>A	ENSP00000493382.1:p.Glu265=
ENST00000641756.1:c.*539G>A	ENSP00000493147.1:n.*539G>A
ENST00000641811.1:c.551G>A
ENST00000641891.1:c.*621G>A	ENSP00000493288.1:n.*621G>A
ENST00000641927.1:n.735G>A
ENST00000641947.1:c.795G>A	ENSP00000492994.1:p.Glu265=
ENST00000642021.1:n.917G>A
ENST00000369407.3:c.693G>A	ENSP00000358415.3:p.Glu231=
ENST00000369409.8:c.795G>A	ENSP00000358417.4:p.Glu265=
NM_006623.3:c.795G>A	NP_006614.2:p.Glu265=
XM_011541226.1:c.1017G>A	XP_011539528.1:p.Glu339=
XM_011541227.1:c.939G>A	XP_011539529.1:p.Glu313=
XM_011541228.1:c.906G>A	XP_011539530.1:p.Glu302=
XM_011541229.1:c.732G>A	XP_011539531.1:p.Glu244=
XM_011541230.1:c.510G>A	XP_011539532.1:p.Glu170=
XM_011541231.1:c.501G>A	XP_011539533.1:p.Glu167=
XM_011541226.2:c.1017G>A	XP_011539528.1:p.Glu339=
XM_011541227.2:c.939G>A	XP_011539529.1:p.Glu313=
XM_011541228.2:c.906G>A	XP_011539530.1:p.Glu302=
XM_011541231.2:c.501G>A	XP_011539533.1:p.Glu167=
XM_024446338.1:c.906G>A	XP_024302106.1:p.Glu302=
NM_006623.4:c.795G>A MANE Select	NP_006614.2:p.Glu265=