Canonical Allele Identifier: CA713157203
Gene: GATM HGNC NCBI

Linked Data

dbSNP Id: rs1300443248
MyVariant Identifiers: chr15:g.45686000T>C (hg19) chr15:g.45393802T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393802T>C , CM000677.2:g.45393802T>C GRCh38
NC_000015.9:g.45686000T>C , CM000677.1:g.45686000T>C GRCh37
NC_000015.8:g.43473292T>C NCBI36
NG_011674.2:g.13516A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000458245.5:n.640+3120A>G
ENST00000527933.2:n.512+2365A>G
ENST00000560538.1:n.338+3120A>G
ENST00000561148.5:c.-319+3120A>G ENSP00000453860.1:n.-319+3120A>G
XM_011521450.1:c.31+3120A>G XP_011519752.1:n.31+3120A>G
NM_001321015.1:c.-395+3120A>G NP_001307944.1:n.-395+3120A>G
NM_001321015.2:c.-395+3120A>G NP_001307944.1:n.-395+3120A>G
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