Canonical Allele Identifier: CA341847635

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269524A>G (hg19) ; chr1:g.119726901A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726901A>G , CM000663.2:g.119726901A>G	GRCh38
NC_000001.10:g.120269524A>G , CM000663.1:g.120269524A>G	GRCh37
NC_000001.9:g.120071047A>G	NCBI36
NG_009188.1:g.20106A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.407A>G	ENSP00000358417.5:p.Lys136Arg
ENST00000462324.2:n.490A>G
ENST00000641023.2:c.407A>G MANE Select	ENSP00000493175.1:p.Lys136Arg
ENST00000641074.1:c.407A>G	ENSP00000493446.1:p.Lys136Arg
ENST00000641115.1:c.407A>G	ENSP00000493264.1:p.Lys136Arg
ENST00000641213.1:c.*60A>G	ENSP00000493079.1:n.*60A>G
ENST00000641247.1:c.*126A>G	ENSP00000492955.1:n.*126A>G
ENST00000641272.1:c.341A>G	ENSP00000493432.1:p.Lys114Arg
ENST00000641314.1:n.392A>G
ENST00000641371.1:c.321A>G	ENSP00000493305.1:p.Glu107=
ENST00000641375.1:c.*243A>G	ENSP00000493089.1:n.*243A>G
ENST00000641491.1:c.*60A>G	ENSP00000493187.1:n.*60A>G
ENST00000641570.1:c.*126A>G	ENSP00000493213.1:n.*126A>G
ENST00000641573.1:n.495A>G
ENST00000641587.1:c.*118A>G	ENSP00000493453.1:n.*118A>G
ENST00000641597.1:c.407A>G	ENSP00000493382.1:p.Lys136Arg
ENST00000641711.1:n.631A>G
ENST00000641756.1:c.*151A>G	ENSP00000493147.1:n.*151A>G
ENST00000641811.1:c.163A>G
ENST00000641847.1:n.266A>G
ENST00000641891.1:c.*233A>G	ENSP00000493288.1:n.*233A>G
ENST00000641927.1:n.347A>G
ENST00000641947.1:c.407A>G	ENSP00000492994.1:p.Lys136Arg
ENST00000642021.1:n.529A>G
ENST00000642041.1:c.*446A>G	ENSP00000493415.1:n.*446A>G
ENST00000369407.3:c.305A>G	ENSP00000358415.3:p.Lys102Arg
ENST00000369409.8:c.407A>G	ENSP00000358417.4:p.Lys136Arg
ENST00000462324.1:n.675A>G
ENST00000493622.5:n.596A>G
NM_006623.3:c.407A>G	NP_006614.2:p.Lys136Arg
XM_011541226.1:c.629A>G	XP_011539528.1:p.Lys210Arg
XM_011541227.1:c.551A>G	XP_011539529.1:p.Lys184Arg
XM_011541228.1:c.518A>G	XP_011539530.1:p.Lys173Arg
XM_011541229.1:c.344A>G	XP_011539531.1:p.Lys115Arg
XM_011541230.1:c.122A>G	XP_011539532.1:p.Lys41Arg
XM_011541231.1:c.113A>G	XP_011539533.1:p.Lys38Arg
XM_011541226.2:c.629A>G	XP_011539528.1:p.Lys210Arg
XM_011541227.2:c.551A>G	XP_011539529.1:p.Lys184Arg
XM_011541228.2:c.518A>G	XP_011539530.1:p.Lys173Arg
XM_011541231.2:c.113A>G	XP_011539533.1:p.Lys38Arg
XM_024446338.1:c.518A>G	XP_024302106.1:p.Lys173Arg
NM_006623.4:c.407A>G MANE Select	NP_006614.2:p.Lys136Arg