Canonical Allele Identifier: CA2582641489
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399808-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399812del , CM000681.2:g.1399812del GRCh38
NC_000019.9:g.1399811del , CM000681.1:g.1399811del GRCh37
NC_000019.8:g.1350811del NCBI36
NG_009785.1:g.6745del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.311del MANE Select ENSP00000252288.1:p.Pro104HisfsTer10
ENST00000447102.8:c.311del ENSP00000403536.2:p.Pro104HisfsTer10
ENST00000640762.1:c.242del ENSP00000492031.1:p.Pro81HisfsTer10
ENST00000252288.6:c.311del ENSP00000252288.1:p.Pro104HisfsTer10
ENST00000447102.7:c.311del ENSP00000403536.2:p.Pro104HisfsTer10
NM_000156.5:c.311del NP_000147.1:p.Pro104HisfsTer10
NM_138924.2:c.311del NP_620279.1:p.Pro104HisfsTer10
NM_000156.6:c.311del MANE Select NP_000147.1:p.Pro104HisfsTer10
NM_138924.3:c.311del NP_620279.1:p.Pro104HisfsTer10
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