Canonical Allele Identifier: CA2499586363
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401247_1401248insG , CM000681.2:g.1401247_1401248insG GRCh38
NC_000019.9:g.1401246_1401247insG , CM000681.1:g.1401246_1401247insG GRCh37
NC_000019.8:g.1352246_1352247insG NCBI36
NG_009785.1:g.5306_5307insC

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.181+48_181+49insC MANE Select ENSP00000252288.1:n.181+48_181+49insC
ENST00000447102.8:c.181+48_181+49insC ENSP00000403536.2:n.181+48_181+49insC
ENST00000640762.1:c.112+117_112+118insC ENSP00000492031.1:n.112+117_112+118insC
ENST00000252288.6:c.181+48_181+49insC ENSP00000252288.1:n.181+48_181+49insC
ENST00000447102.7:c.181+48_181+49insC ENSP00000403536.2:n.181+48_181+49insC
NM_000156.5:c.181+48_181+49insC NP_000147.1:n.181+48_181+49insC
NM_138924.2:c.181+48_181+49insC NP_620279.1:n.181+48_181+49insC
NM_000156.6:c.181+48_181+49insC MANE Select NP_000147.1:n.181+48_181+49insC
NM_138924.3:c.181+48_181+49insC NP_620279.1:n.181+48_181+49insC
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