Canonical Allele Identifier: CA341847581

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269500T>G (hg19) ; chr1:g.119726877T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726877T>G , CM000663.2:g.119726877T>G	GRCh38
NC_000001.10:g.120269500T>G , CM000663.1:g.120269500T>G	GRCh37
NC_000001.9:g.120071023T>G	NCBI36
NG_009188.1:g.20082T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.383T>G	ENSP00000358417.5:p.Met128Arg
ENST00000462324.2:n.466T>G
ENST00000641023.2:c.383T>G MANE Select	ENSP00000493175.1:p.Met128Arg
ENST00000641074.1:c.383T>G	ENSP00000493446.1:p.Met128Arg
ENST00000641115.1:c.383T>G	ENSP00000493264.1:p.Met128Arg
ENST00000641213.1:c.*36T>G	ENSP00000493079.1:n.*36T>G
ENST00000641247.1:c.*102T>G	ENSP00000492955.1:n.*102T>G
ENST00000641272.1:c.317T>G	ENSP00000493432.1:p.Met106Arg
ENST00000641314.1:n.368T>G
ENST00000641371.1:c.297T>G	ENSP00000493305.1:p.Asp99Glu
ENST00000641375.1:c.*219T>G	ENSP00000493089.1:n.*219T>G
ENST00000641491.1:c.*36T>G	ENSP00000493187.1:n.*36T>G
ENST00000641513.1:c.*127T>G	ENSP00000493398.1:n.*127T>G
ENST00000641570.1:c.*102T>G	ENSP00000493213.1:n.*102T>G
ENST00000641573.1:n.471T>G
ENST00000641587.1:c.*94T>G	ENSP00000493453.1:n.*94T>G
ENST00000641597.1:c.383T>G	ENSP00000493382.1:p.Met128Arg
ENST00000641711.1:n.607T>G
ENST00000641756.1:c.*127T>G	ENSP00000493147.1:n.*127T>G
ENST00000641811.1:c.139T>G
ENST00000641847.1:n.242T>G
ENST00000641891.1:c.*209T>G	ENSP00000493288.1:n.*209T>G
ENST00000641927.1:n.323T>G
ENST00000641947.1:c.383T>G	ENSP00000492994.1:p.Met128Arg
ENST00000642021.1:n.505T>G
ENST00000642041.1:c.*422T>G	ENSP00000493415.1:n.*422T>G
ENST00000369407.3:c.281T>G	ENSP00000358415.3:p.Met94Arg
ENST00000369409.8:c.383T>G	ENSP00000358417.4:p.Met128Arg
ENST00000462324.1:n.651T>G
ENST00000493622.5:n.572T>G
NM_006623.3:c.383T>G	NP_006614.2:p.Met128Arg
XM_011541226.1:c.605T>G	XP_011539528.1:p.Met202Arg
XM_011541227.1:c.527T>G	XP_011539529.1:p.Met176Arg
XM_011541228.1:c.494T>G	XP_011539530.1:p.Met165Arg
XM_011541229.1:c.320T>G	XP_011539531.1:p.Met107Arg
XM_011541230.1:c.98T>G	XP_011539532.1:p.Met33Arg
XM_011541231.1:c.89T>G	XP_011539533.1:p.Met30Arg
XM_011541226.2:c.605T>G	XP_011539528.1:p.Met202Arg
XM_011541227.2:c.527T>G	XP_011539529.1:p.Met176Arg
XM_011541228.2:c.494T>G	XP_011539530.1:p.Met165Arg
XM_011541231.2:c.89T>G	XP_011539533.1:p.Met30Arg
XM_024446338.1:c.494T>G	XP_024302106.1:p.Met165Arg
NM_006623.4:c.383T>G MANE Select	NP_006614.2:p.Met128Arg