Canonical Allele Identifier: CA2317700528
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1338232339
gnomAD v4: 19-1401522-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401522G>T , CM000681.2:g.1401522G>T GRCh38
NC_000019.9:g.1401521G>T , CM000681.1:g.1401521G>T GRCh37
NC_000019.8:g.1352521G>T NCBI36
NG_009785.1:g.5032C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.-46C>A MANE Select ENSP00000252288.1:n.-46C>A
ENST00000447102.8:c.-46C>A ENSP00000403536.2:n.-46C>A
ENST00000252288.6:c.-46C>A ENSP00000252288.1:n.-46C>A
ENST00000447102.7:c.-46C>A ENSP00000403536.2:n.-46C>A
NM_000156.5:c.-46C>A NP_000147.1:n.-46C>A
NM_138924.2:c.-46C>A NP_620279.1:n.-46C>A
NM_000156.6:c.-46C>A MANE Select NP_000147.1:n.-46C>A
NM_138924.3:c.-46C>A NP_620279.1:n.-46C>A
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