Canonical Allele Identifier: CA2501112558
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401563-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401563A>C , CM000681.2:g.1401563A>C GRCh38
NC_000019.9:g.1401562A>C , CM000681.1:g.1401562A>C GRCh37
NC_000019.8:g.1352562A>C NCBI36
NG_009785.1:g.4991T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-87T>G ENSP00000403536.2:n.-87T>G
ENST00000447102.7:c.-87T>G ENSP00000403536.2:n.-87T>G
NM_000156.5:c.-87T>G NP_000147.1:n.-87T>G
NM_138924.2:c.-87T>G NP_620279.1:n.-87T>G
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