Canonical Allele Identifier: CA420013751

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279760G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737137G>A , CM000663.2:g.119737137G>A	GRCh38
NC_000001.10:g.120279760G>A , CM000663.1:g.120279760G>A	GRCh37
NC_000001.9:g.120081283G>A	NCBI36
NG_009188.1:g.30342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.816G>A	ENSP00000358417.5:p.Leu272=
ENST00000469443.2:n.636G>A
ENST00000641023.2:c.816G>A MANE Select	ENSP00000493175.1:p.Leu272=
ENST00000641074.1:c.816G>A	ENSP00000493446.1:p.Leu272=
ENST00000641115.1:c.816G>A	ENSP00000493264.1:p.Leu272=
ENST00000641213.1:c.*469G>A	ENSP00000493079.1:n.*469G>A
ENST00000641314.1:n.801G>A
ENST00000641375.1:c.*652G>A	ENSP00000493089.1:n.*652G>A
ENST00000641597.1:c.816G>A	ENSP00000493382.1:p.Leu272=
ENST00000641756.1:c.*560G>A	ENSP00000493147.1:n.*560G>A
ENST00000641811.1:c.572G>A
ENST00000641891.1:c.*642G>A	ENSP00000493288.1:n.*642G>A
ENST00000641927.1:n.756G>A
ENST00000641947.1:c.816G>A	ENSP00000492994.1:p.Leu272=
ENST00000642021.1:n.938G>A
ENST00000369407.3:c.714G>A	ENSP00000358415.3:p.Leu238=
ENST00000369409.8:c.816G>A	ENSP00000358417.4:p.Leu272=
NM_006623.3:c.816G>A	NP_006614.2:p.Leu272=
XM_011541226.1:c.1038G>A	XP_011539528.1:p.Leu346=
XM_011541227.1:c.960G>A	XP_011539529.1:p.Leu320=
XM_011541228.1:c.927G>A	XP_011539530.1:p.Leu309=
XM_011541229.1:c.753G>A	XP_011539531.1:p.Leu251=
XM_011541230.1:c.531G>A	XP_011539532.1:p.Leu177=
XM_011541231.1:c.522G>A	XP_011539533.1:p.Leu174=
XM_011541226.2:c.1038G>A	XP_011539528.1:p.Leu346=
XM_011541227.2:c.960G>A	XP_011539529.1:p.Leu320=
XM_011541228.2:c.927G>A	XP_011539530.1:p.Leu309=
XM_011541231.2:c.522G>A	XP_011539533.1:p.Leu174=
XM_024446338.1:c.927G>A	XP_024302106.1:p.Leu309=
NM_006623.4:c.816G>A MANE Select	NP_006614.2:p.Leu272=