Canonical Allele Identifier: CA341847600

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269507C>G (hg19) ; chr1:g.119726884C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726884C>G , CM000663.2:g.119726884C>G	GRCh38
NC_000001.10:g.120269507C>G , CM000663.1:g.120269507C>G	GRCh37
NC_000001.9:g.120071030C>G	NCBI36
NG_009188.1:g.20089C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.390C>G	ENSP00000358417.5:p.Asp130Glu
ENST00000462324.2:n.473C>G
ENST00000641023.2:c.390C>G MANE Select	ENSP00000493175.1:p.Asp130Glu
ENST00000641074.1:c.390C>G	ENSP00000493446.1:p.Asp130Glu
ENST00000641115.1:c.390C>G	ENSP00000493264.1:p.Asp130Glu
ENST00000641213.1:c.*43C>G	ENSP00000493079.1:n.*43C>G
ENST00000641247.1:c.*109C>G	ENSP00000492955.1:n.*109C>G
ENST00000641272.1:c.324C>G	ENSP00000493432.1:p.Asp108Glu
ENST00000641314.1:n.375C>G
ENST00000641371.1:c.304C>G	ENSP00000493305.1:p.Arg102Gly
ENST00000641375.1:c.*226C>G	ENSP00000493089.1:n.*226C>G
ENST00000641491.1:c.*43C>G	ENSP00000493187.1:n.*43C>G
ENST00000641513.1:c.*134C>G	ENSP00000493398.1:n.*134C>G
ENST00000641570.1:c.*109C>G	ENSP00000493213.1:n.*109C>G
ENST00000641573.1:n.478C>G
ENST00000641587.1:c.*101C>G	ENSP00000493453.1:n.*101C>G
ENST00000641597.1:c.390C>G	ENSP00000493382.1:p.Asp130Glu
ENST00000641711.1:n.614C>G
ENST00000641756.1:c.*134C>G	ENSP00000493147.1:n.*134C>G
ENST00000641811.1:c.146C>G
ENST00000641847.1:n.249C>G
ENST00000641891.1:c.*216C>G	ENSP00000493288.1:n.*216C>G
ENST00000641927.1:n.330C>G
ENST00000641947.1:c.390C>G	ENSP00000492994.1:p.Asp130Glu
ENST00000642021.1:n.512C>G
ENST00000642041.1:c.*429C>G	ENSP00000493415.1:n.*429C>G
ENST00000369407.3:c.288C>G	ENSP00000358415.3:p.Asp96Glu
ENST00000369409.8:c.390C>G	ENSP00000358417.4:p.Asp130Glu
ENST00000462324.1:n.658C>G
ENST00000493622.5:n.579C>G
NM_006623.3:c.390C>G	NP_006614.2:p.Asp130Glu
XM_011541226.1:c.612C>G	XP_011539528.1:p.Asp204Glu
XM_011541227.1:c.534C>G	XP_011539529.1:p.Asp178Glu
XM_011541228.1:c.501C>G	XP_011539530.1:p.Asp167Glu
XM_011541229.1:c.327C>G	XP_011539531.1:p.Asp109Glu
XM_011541230.1:c.105C>G	XP_011539532.1:p.Asp35Glu
XM_011541231.1:c.96C>G	XP_011539533.1:p.Asp32Glu
XM_011541226.2:c.612C>G	XP_011539528.1:p.Asp204Glu
XM_011541227.2:c.534C>G	XP_011539529.1:p.Asp178Glu
XM_011541228.2:c.501C>G	XP_011539530.1:p.Asp167Glu
XM_011541231.2:c.96C>G	XP_011539533.1:p.Asp32Glu
XM_024446338.1:c.501C>G	XP_024302106.1:p.Asp167Glu
NM_006623.4:c.390C>G MANE Select	NP_006614.2:p.Asp130Glu