Canonical Allele Identifier: CA341851131

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279766C>G (hg19) ; chr1:g.119737143C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737143C>G , CM000663.2:g.119737143C>G	GRCh38
NC_000001.10:g.120279766C>G , CM000663.1:g.120279766C>G	GRCh37
NC_000001.9:g.120081289C>G	NCBI36
NG_009188.1:g.30348C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.822C>G	ENSP00000358417.5:p.Asp274Glu
ENST00000469443.2:n.642C>G
ENST00000641023.2:c.822C>G MANE Select	ENSP00000493175.1:p.Asp274Glu
ENST00000641074.1:c.822C>G	ENSP00000493446.1:p.Asp274Glu
ENST00000641115.1:c.822C>G	ENSP00000493264.1:p.Asp274Glu
ENST00000641213.1:c.*475C>G	ENSP00000493079.1:n.*475C>G
ENST00000641314.1:n.807C>G
ENST00000641375.1:c.*658C>G	ENSP00000493089.1:n.*658C>G
ENST00000641597.1:c.822C>G	ENSP00000493382.1:p.Asp274Glu
ENST00000641756.1:c.*566C>G	ENSP00000493147.1:n.*566C>G
ENST00000641811.1:c.578C>G
ENST00000641891.1:c.*648C>G	ENSP00000493288.1:n.*648C>G
ENST00000641927.1:n.762C>G
ENST00000641947.1:c.822C>G	ENSP00000492994.1:p.Asp274Glu
ENST00000642021.1:n.944C>G
ENST00000369407.3:c.720C>G	ENSP00000358415.3:p.Asp240Glu
ENST00000369409.8:c.822C>G	ENSP00000358417.4:p.Asp274Glu
NM_006623.3:c.822C>G	NP_006614.2:p.Asp274Glu
XM_011541226.1:c.1044C>G	XP_011539528.1:p.Asp348Glu
XM_011541227.1:c.966C>G	XP_011539529.1:p.Asp322Glu
XM_011541228.1:c.933C>G	XP_011539530.1:p.Asp311Glu
XM_011541229.1:c.759C>G	XP_011539531.1:p.Asp253Glu
XM_011541230.1:c.537C>G	XP_011539532.1:p.Asp179Glu
XM_011541231.1:c.528C>G	XP_011539533.1:p.Asp176Glu
XM_011541226.2:c.1044C>G	XP_011539528.1:p.Asp348Glu
XM_011541227.2:c.966C>G	XP_011539529.1:p.Asp322Glu
XM_011541228.2:c.933C>G	XP_011539530.1:p.Asp311Glu
XM_011541231.2:c.528C>G	XP_011539533.1:p.Asp176Glu
XM_024446338.1:c.933C>G	XP_024302106.1:p.Asp311Glu
NM_006623.4:c.822C>G MANE Select	NP_006614.2:p.Asp274Glu