Canonical Allele Identifier: CA713147688

Gene: GATM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45376524A>G , CM000677.2:g.45376524A>G	GRCh38
NC_000015.9:g.45668722A>G , CM000677.1:g.45668722A>G	GRCh37
NC_000015.8:g.43456014A>G	NCBI36
NG_011674.1:g.7259T>C
NG_011674.2:g.30794T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001482.3:c.288+77T>C MANE Select	NP_001473.1:n.288+77T>C
ENST00000396659.8:c.288+77T>C MANE Select	ENSP00000379895.3:n.288+77T>C
NM_001321015.1:c.-100+77T>C	NP_001307944.1:n.-100+77T>C
NM_001321015.2:c.-100+77T>C	NP_001307944.1:n.-100+77T>C
NM_001482.2:c.288+77T>C	NP_001473.1:n.288+77T>C
ENST00000396659.7:c.288+77T>C	ENSP00000379895.3:n.288+77T>C
ENST00000558118.1:c.288+77T>C	ENSP00000452971.1:n.288+77T>C
ENST00000558163.1:c.69+1861T>C	ENSP00000453781.1:n.69+1861T>C
ENST00000558336.5:c.288+77T>C	ENSP00000454008.1:n.288+77T>C
ENST00000558362.5:n.1944+77T>C
ENST00000558537.5:c.-100+77T>C	ENSP00000453151.1:n.-100+77T>C
ENST00000559885.1:c.-100+77T>C	ENSP00000453087.1:n.-100+77T>C
ENST00000561148.5:c.-100+77T>C	ENSP00000453860.1:n.-100+77T>C
ENST00000674905.1:c.288+77T>C	ENSP00000502176.1:n.288+77T>C
ENST00000675158.1:c.288+77T>C	ENSP00000501737.1:n.288+77T>C
ENST00000675323.1:c.288+77T>C	ENSP00000502445.1:n.288+77T>C
ENST00000675701.1:c.228+77T>C	ENSP00000502671.1:n.228+77T>C
ENST00000675974.1:n.379+77T>C
ENST00000676090.1:c.*50T>C	ENSP00000501630.1:n.*50T>C
XM_011521450.1:c.336+77T>C	XP_011519752.1:n.336+77T>C
XM_011521451.1:c.330+77T>C	XP_011519753.1:n.330+77T>C