Canonical Allele Identifier: CA2174067246

Gene: GATM

Linked Data

• dbSNP Id: rs1666604102

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45393847G>C , CM000677.2:g.45393847G>C	GRCh38
NC_000015.9:g.45686045G>C , CM000677.1:g.45686045G>C	GRCh37
NC_000015.8:g.43473337G>C	NCBI36
NG_011674.2:g.13471C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000458245.5:n.640+3075C>G
ENST00000527933.2:n.512+2320C>G
ENST00000560538.1:n.338+3075C>G
ENST00000561148.5:c.-319+3075C>G	ENSP00000453860.1:n.-319+3075C>G
XM_011521450.1:c.31+3075C>G	XP_011519752.1:n.31+3075C>G
NM_001321015.1:c.-395+3075C>G	NP_001307944.1:n.-395+3075C>G
NM_001321015.2:c.-395+3075C>G	NP_001307944.1:n.-395+3075C>G