Canonical Allele Identifier: CA2582641975
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401516-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401519del , CM000681.2:g.1401519del GRCh38
NC_000019.9:g.1401518del , CM000681.1:g.1401518del GRCh37
NC_000019.8:g.1352518del NCBI36
NG_009785.1:g.5037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.-41del MANE Select ENSP00000252288.1:n.-41del
ENST00000447102.8:c.-41del ENSP00000403536.2:n.-41del
ENST00000252288.6:c.-41del ENSP00000252288.1:n.-41del
ENST00000447102.7:c.-41del ENSP00000403536.2:n.-41del
NM_000156.5:c.-41del NP_000147.1:n.-41del
NM_138924.2:c.-41del NP_620279.1:n.-41del
NM_000156.6:c.-41del MANE Select NP_000147.1:n.-41del
NM_138924.3:c.-41del NP_620279.1:n.-41del
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