Canonical Allele Identifier: CA969359935
Gene: GATM HGNC NCBI

Linked Data

gnomAD v3: 15-45393885-C-A
gnomAD v4: 15-45393885-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393885C>A , CM000677.2:g.45393885C>A GRCh38
NC_000015.9:g.45686083C>A , CM000677.1:g.45686083C>A GRCh37
NC_000015.8:g.43473375C>A NCBI36
NG_011674.2:g.13433G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000458245.5:n.640+3037G>T
ENST00000527933.2:n.512+2282G>T
ENST00000560538.1:n.338+3037G>T
ENST00000561148.5:c.-319+3037G>T ENSP00000453860.1:n.-319+3037G>T
XM_011521450.1:c.31+3037G>T XP_011519752.1:n.31+3037G>T
NM_001321015.1:c.-395+3037G>T NP_001307944.1:n.-395+3037G>T
NM_001321015.2:c.-395+3037G>T NP_001307944.1:n.-395+3037G>T
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