Canonical Allele Identifier: CA2582641490
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399830-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399832dup , CM000681.2:g.1399832dup GRCh38
NC_000019.9:g.1399831dup , CM000681.1:g.1399831dup GRCh37
NC_000019.8:g.1350831dup NCBI36
NG_009785.1:g.6723dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.289dup MANE Select ENSP00000252288.1:p.Gln97ProfsTer30
ENST00000447102.8:c.289dup ENSP00000403536.2:p.Gln97ProfsTer30
ENST00000640762.1:c.220dup ENSP00000492031.1:p.Gln74ProfsTer30
ENST00000252288.6:c.289dup ENSP00000252288.1:p.Gln97ProfsTer30
ENST00000447102.7:c.289dup ENSP00000403536.2:p.Gln97ProfsTer30
NM_000156.5:c.289dup NP_000147.1:p.Gln97ProfsTer30
NM_138924.2:c.289dup NP_620279.1:p.Gln97ProfsTer30
NM_000156.6:c.289dup MANE Select NP_000147.1:p.Gln97ProfsTer30
NM_138924.3:c.289dup NP_620279.1:p.Gln97ProfsTer30
Search 100 bp 5'
Search 100 bp 3'