Canonical Allele Identifier: CA341851091

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279746C>G (hg19) ; chr1:g.119737123C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737123C>G , CM000663.2:g.119737123C>G	GRCh38
NC_000001.10:g.120279746C>G , CM000663.1:g.120279746C>G	GRCh37
NC_000001.9:g.120081269C>G	NCBI36
NG_009188.1:g.30328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.802C>G	ENSP00000358417.5:p.Arg268Gly
ENST00000469443.2:n.622C>G
ENST00000641023.2:c.802C>G MANE Select	ENSP00000493175.1:p.Arg268Gly
ENST00000641074.1:c.802C>G	ENSP00000493446.1:p.Arg268Gly
ENST00000641115.1:c.802C>G	ENSP00000493264.1:p.Arg268Gly
ENST00000641213.1:c.*455C>G	ENSP00000493079.1:n.*455C>G
ENST00000641314.1:n.787C>G
ENST00000641375.1:c.*638C>G	ENSP00000493089.1:n.*638C>G
ENST00000641597.1:c.802C>G	ENSP00000493382.1:p.Arg268Gly
ENST00000641756.1:c.*546C>G	ENSP00000493147.1:n.*546C>G
ENST00000641811.1:c.558C>G
ENST00000641891.1:c.*628C>G	ENSP00000493288.1:n.*628C>G
ENST00000641927.1:n.742C>G
ENST00000641947.1:c.802C>G	ENSP00000492994.1:p.Arg268Gly
ENST00000642021.1:n.924C>G
ENST00000369407.3:c.700C>G	ENSP00000358415.3:p.Arg234Gly
ENST00000369409.8:c.802C>G	ENSP00000358417.4:p.Arg268Gly
NM_006623.3:c.802C>G	NP_006614.2:p.Arg268Gly
XM_011541226.1:c.1024C>G	XP_011539528.1:p.Arg342Gly
XM_011541227.1:c.946C>G	XP_011539529.1:p.Arg316Gly
XM_011541228.1:c.913C>G	XP_011539530.1:p.Arg305Gly
XM_011541229.1:c.739C>G	XP_011539531.1:p.Arg247Gly
XM_011541230.1:c.517C>G	XP_011539532.1:p.Arg173Gly
XM_011541231.1:c.508C>G	XP_011539533.1:p.Arg170Gly
XM_011541226.2:c.1024C>G	XP_011539528.1:p.Arg342Gly
XM_011541227.2:c.946C>G	XP_011539529.1:p.Arg316Gly
XM_011541228.2:c.913C>G	XP_011539530.1:p.Arg305Gly
XM_011541231.2:c.508C>G	XP_011539533.1:p.Arg170Gly
XM_024446338.1:c.913C>G	XP_024302106.1:p.Arg305Gly
NM_006623.4:c.802C>G MANE Select	NP_006614.2:p.Arg268Gly