Canonical Allele Identifier: CA341854271

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743924C>G , CM000663.2:g.119743924C>G	GRCh38
NC_000001.10:g.120286547C>G , CM000663.1:g.120286547C>G	GRCh37
NC_000001.9:g.120088070C>G	NCBI36
NG_009188.1:g.37129C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1505C>G	ENSP00000358417.5:p.Pro502Arg
ENST00000641023.2:c.1486C>G MANE Select	ENSP00000493175.1:p.Gln496Glu
ENST00000641074.1:c.*65C>G	ENSP00000493446.1:n.*65C>G
ENST00000641115.1:c.1222C>G	ENSP00000493264.1:p.Gln408Glu
ENST00000641213.1:c.*1139C>G	ENSP00000493079.1:n.*1139C>G
ENST00000641314.1:n.1471C>G
ENST00000641375.1:c.*1322C>G	ENSP00000493089.1:n.*1322C>G
ENST00000641597.1:c.1486C>G	ENSP00000493382.1:p.Gln496Glu
ENST00000641756.1:c.*1230C>G	ENSP00000493147.1:n.*1230C>G
ENST00000641811.1:c.740C>G
ENST00000641891.1:c.*1312C>G	ENSP00000493288.1:n.*1312C>G
ENST00000641927.1:n.1426C>G
ENST00000641947.1:c.1465C>G	ENSP00000492994.1:p.Gln489Glu
ENST00000642021.1:n.2517C>G
ENST00000369407.3:c.1384C>G	ENSP00000358415.3:p.Gln462Glu
ENST00000369409.8:c.1486C>G	ENSP00000358417.4:p.Gln496Glu
ENST00000482968.1:n.1465C>G
NM_006623.3:c.1486C>G	NP_006614.2:p.Gln496Glu
XM_011541226.1:c.1708C>G	XP_011539528.1:p.Gln570Glu
XM_011541227.1:c.1630C>G	XP_011539529.1:p.Gln544Glu
XM_011541228.1:c.1597C>G	XP_011539530.1:p.Gln533Glu
XM_011541229.1:c.1423C>G	XP_011539531.1:p.Gln475Glu
XM_011541230.1:c.1201C>G	XP_011539532.1:p.Gln401Glu
XM_011541231.1:c.1192C>G	XP_011539533.1:p.Gln398Glu
XM_011541226.2:c.1708C>G	XP_011539528.1:p.Gln570Glu
XM_011541227.2:c.1630C>G	XP_011539529.1:p.Gln544Glu
XM_011541228.2:c.1597C>G	XP_011539530.1:p.Gln533Glu
XM_011541231.2:c.1192C>G	XP_011539533.1:p.Gln398Glu
XM_024446338.1:c.1597C>G	XP_024302106.1:p.Gln533Glu
NM_006623.4:c.1486C>G MANE Select	NP_006614.2:p.Gln496Glu