Canonical Allele Identifier: CA2582641076
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399056-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399057del , CM000681.2:g.1399057del GRCh38
NC_000019.9:g.1399056del , CM000681.1:g.1399056del GRCh37
NC_000019.8:g.1350056del NCBI36
NG_009785.1:g.7497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.460-31del MANE Select ENSP00000252288.1:n.460-31del
ENST00000447102.8:c.460-31del ENSP00000403536.2:n.460-31del
ENST00000591788.3:c.143-31del
ENST00000640164.1:n.293-31del
ENST00000640762.1:c.391-31del ENSP00000492031.1:n.391-31del
ENST00000252288.6:c.460-31del ENSP00000252288.1:n.460-31del
ENST00000447102.7:c.460-31del ENSP00000403536.2:n.460-31del
ENST00000591788.2:c.145-31del ENSP00000466341.2:n.145-31del
NM_000156.5:c.460-31del NP_000147.1:n.460-31del
NM_138924.2:c.460-31del NP_620279.1:n.460-31del
NM_000156.6:c.460-31del MANE Select NP_000147.1:n.460-31del
NM_138924.3:c.460-31del NP_620279.1:n.460-31del
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