Canonical Allele Identifier: CA341854269

Gene: PHGDH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1505C>A	ENSP00000358417.5:p.Pro502Gln
ENST00000641023.2:c.1486C>A MANE Select	ENSP00000493175.1:p.Gln496Lys
ENST00000641074.1:c.*65C>A	ENSP00000493446.1:n.*65C>A
ENST00000641115.1:c.1222C>A	ENSP00000493264.1:p.Gln408Lys
ENST00000641213.1:c.*1139C>A	ENSP00000493079.1:n.*1139C>A
ENST00000641314.1:n.1471C>A
ENST00000641375.1:c.*1322C>A	ENSP00000493089.1:n.*1322C>A
ENST00000641597.1:c.1486C>A	ENSP00000493382.1:p.Gln496Lys
ENST00000641756.1:c.*1230C>A	ENSP00000493147.1:n.*1230C>A
ENST00000641811.1:c.740C>A
ENST00000641891.1:c.*1312C>A	ENSP00000493288.1:n.*1312C>A
ENST00000641927.1:n.1426C>A
ENST00000641947.1:c.1465C>A	ENSP00000492994.1:p.Gln489Lys
ENST00000642021.1:n.2517C>A
ENST00000369407.3:c.1384C>A	ENSP00000358415.3:p.Gln462Lys
ENST00000369409.8:c.1486C>A	ENSP00000358417.4:p.Gln496Lys
ENST00000482968.1:n.1465C>A
NM_006623.3:c.1486C>A	NP_006614.2:p.Gln496Lys
XM_011541226.1:c.1708C>A	XP_011539528.1:p.Gln570Lys
XM_011541227.1:c.1630C>A	XP_011539529.1:p.Gln544Lys
XM_011541228.1:c.1597C>A	XP_011539530.1:p.Gln533Lys
XM_011541229.1:c.1423C>A	XP_011539531.1:p.Gln475Lys
XM_011541230.1:c.1201C>A	XP_011539532.1:p.Gln401Lys
XM_011541231.1:c.1192C>A	XP_011539533.1:p.Gln398Lys
XM_011541226.2:c.1708C>A	XP_011539528.1:p.Gln570Lys
XM_011541227.2:c.1630C>A	XP_011539529.1:p.Gln544Lys
XM_011541228.2:c.1597C>A	XP_011539530.1:p.Gln533Lys
XM_011541231.2:c.1192C>A	XP_011539533.1:p.Gln398Lys
XM_024446338.1:c.1597C>A	XP_024302106.1:p.Gln533Lys
NM_006623.4:c.1486C>A MANE Select	NP_006614.2:p.Gln496Lys