Canonical Allele Identifier: CA2582641830
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401250-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401250G>T , CM000681.2:g.1401250G>T GRCh38
NC_000019.9:g.1401249G>T , CM000681.1:g.1401249G>T GRCh37
NC_000019.8:g.1352249G>T NCBI36
NG_009785.1:g.5304C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.181+46C>A MANE Select ENSP00000252288.1:n.181+46C>A
ENST00000447102.8:c.181+46C>A ENSP00000403536.2:n.181+46C>A
ENST00000640762.1:c.112+115C>A ENSP00000492031.1:n.112+115C>A
ENST00000252288.6:c.181+46C>A ENSP00000252288.1:n.181+46C>A
ENST00000447102.7:c.181+46C>A ENSP00000403536.2:n.181+46C>A
NM_000156.5:c.181+46C>A NP_000147.1:n.181+46C>A
NM_138924.2:c.181+46C>A NP_620279.1:n.181+46C>A
NM_000156.6:c.181+46C>A MANE Select NP_000147.1:n.181+46C>A
NM_138924.3:c.181+46C>A NP_620279.1:n.181+46C>A
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