Canonical Allele Identifier: CA341851100

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279751C>A (hg19) ; chr1:g.119737128C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737128C>A , CM000663.2:g.119737128C>A	GRCh38
NC_000001.10:g.120279751C>A , CM000663.1:g.120279751C>A	GRCh37
NC_000001.9:g.120081274C>A	NCBI36
NG_009188.1:g.30333C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.807C>A	ENSP00000358417.5:p.Asp269Glu
ENST00000469443.2:n.627C>A
ENST00000641023.2:c.807C>A MANE Select	ENSP00000493175.1:p.Asp269Glu
ENST00000641074.1:c.807C>A	ENSP00000493446.1:p.Asp269Glu
ENST00000641115.1:c.807C>A	ENSP00000493264.1:p.Asp269Glu
ENST00000641213.1:c.*460C>A	ENSP00000493079.1:n.*460C>A
ENST00000641314.1:n.792C>A
ENST00000641375.1:c.*643C>A	ENSP00000493089.1:n.*643C>A
ENST00000641597.1:c.807C>A	ENSP00000493382.1:p.Asp269Glu
ENST00000641756.1:c.*551C>A	ENSP00000493147.1:n.*551C>A
ENST00000641811.1:c.563C>A
ENST00000641891.1:c.*633C>A	ENSP00000493288.1:n.*633C>A
ENST00000641927.1:n.747C>A
ENST00000641947.1:c.807C>A	ENSP00000492994.1:p.Asp269Glu
ENST00000642021.1:n.929C>A
ENST00000369407.3:c.705C>A	ENSP00000358415.3:p.Asp235Glu
ENST00000369409.8:c.807C>A	ENSP00000358417.4:p.Asp269Glu
NM_006623.3:c.807C>A	NP_006614.2:p.Asp269Glu
XM_011541226.1:c.1029C>A	XP_011539528.1:p.Asp343Glu
XM_011541227.1:c.951C>A	XP_011539529.1:p.Asp317Glu
XM_011541228.1:c.918C>A	XP_011539530.1:p.Asp306Glu
XM_011541229.1:c.744C>A	XP_011539531.1:p.Asp248Glu
XM_011541230.1:c.522C>A	XP_011539532.1:p.Asp174Glu
XM_011541231.1:c.513C>A	XP_011539533.1:p.Asp171Glu
XM_011541226.2:c.1029C>A	XP_011539528.1:p.Asp343Glu
XM_011541227.2:c.951C>A	XP_011539529.1:p.Asp317Glu
XM_011541228.2:c.918C>A	XP_011539530.1:p.Asp306Glu
XM_011541231.2:c.513C>A	XP_011539533.1:p.Asp171Glu
XM_024446338.1:c.918C>A	XP_024302106.1:p.Asp306Glu
NM_006623.4:c.807C>A MANE Select	NP_006614.2:p.Asp269Glu