Canonical Allele Identifier: CA341847632

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269523A>G (hg19) ; chr1:g.119726900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726900A>G , CM000663.2:g.119726900A>G	GRCh38
NC_000001.10:g.120269523A>G , CM000663.1:g.120269523A>G	GRCh37
NC_000001.9:g.120071046A>G	NCBI36
NG_009188.1:g.20105A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.406A>G	ENSP00000358417.5:p.Lys136Glu
ENST00000462324.2:n.489A>G
ENST00000641023.2:c.406A>G MANE Select	ENSP00000493175.1:p.Lys136Glu
ENST00000641074.1:c.406A>G	ENSP00000493446.1:p.Lys136Glu
ENST00000641115.1:c.406A>G	ENSP00000493264.1:p.Lys136Glu
ENST00000641213.1:c.*59A>G	ENSP00000493079.1:n.*59A>G
ENST00000641247.1:c.*125A>G	ENSP00000492955.1:n.*125A>G
ENST00000641272.1:c.340A>G	ENSP00000493432.1:p.Lys114Glu
ENST00000641314.1:n.391A>G
ENST00000641371.1:c.320A>G	ENSP00000493305.1:p.Glu107Gly
ENST00000641375.1:c.*242A>G	ENSP00000493089.1:n.*242A>G
ENST00000641491.1:c.*59A>G	ENSP00000493187.1:n.*59A>G
ENST00000641570.1:c.*125A>G	ENSP00000493213.1:n.*125A>G
ENST00000641573.1:n.494A>G
ENST00000641587.1:c.*117A>G	ENSP00000493453.1:n.*117A>G
ENST00000641597.1:c.406A>G	ENSP00000493382.1:p.Lys136Glu
ENST00000641711.1:n.630A>G
ENST00000641756.1:c.*150A>G	ENSP00000493147.1:n.*150A>G
ENST00000641811.1:c.162A>G
ENST00000641847.1:n.265A>G
ENST00000641891.1:c.*232A>G	ENSP00000493288.1:n.*232A>G
ENST00000641927.1:n.346A>G
ENST00000641947.1:c.406A>G	ENSP00000492994.1:p.Lys136Glu
ENST00000642021.1:n.528A>G
ENST00000642041.1:c.*445A>G	ENSP00000493415.1:n.*445A>G
ENST00000369407.3:c.304A>G	ENSP00000358415.3:p.Lys102Glu
ENST00000369409.8:c.406A>G	ENSP00000358417.4:p.Lys136Glu
ENST00000462324.1:n.674A>G
ENST00000493622.5:n.595A>G
NM_006623.3:c.406A>G	NP_006614.2:p.Lys136Glu
XM_011541226.1:c.628A>G	XP_011539528.1:p.Lys210Glu
XM_011541227.1:c.550A>G	XP_011539529.1:p.Lys184Glu
XM_011541228.1:c.517A>G	XP_011539530.1:p.Lys173Glu
XM_011541229.1:c.343A>G	XP_011539531.1:p.Lys115Glu
XM_011541230.1:c.121A>G	XP_011539532.1:p.Lys41Glu
XM_011541231.1:c.112A>G	XP_011539533.1:p.Lys38Glu
XM_011541226.2:c.628A>G	XP_011539528.1:p.Lys210Glu
XM_011541227.2:c.550A>G	XP_011539529.1:p.Lys184Glu
XM_011541228.2:c.517A>G	XP_011539530.1:p.Lys173Glu
XM_011541231.2:c.112A>G	XP_011539533.1:p.Lys38Glu
XM_024446338.1:c.517A>G	XP_024302106.1:p.Lys173Glu
NM_006623.4:c.406A>G MANE Select	NP_006614.2:p.Lys136Glu