Canonical Allele Identifier: CA2317699155
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2829281
ClinVar RCV Id: RCV003747207
dbSNP Id: rs2082618882
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399212A>C , CM000681.2:g.1399212A>C GRCh38
NC_000019.9:g.1399211A>C , CM000681.1:g.1399211A>C GRCh37
NC_000019.8:g.1350211A>C NCBI36
NG_009785.1:g.7342T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-17T>G MANE Select ENSP00000252288.1:n.392-17T>G
ENST00000447102.8:c.392-17T>G ENSP00000403536.2:n.392-17T>G
ENST00000591788.3:c.75-17T>G
ENST00000640164.1:n.225-17T>G
ENST00000640762.1:c.323-17T>G ENSP00000492031.1:n.323-17T>G
ENST00000252288.6:c.392-17T>G ENSP00000252288.1:n.392-17T>G
ENST00000447102.7:c.392-17T>G ENSP00000403536.2:n.392-17T>G
ENST00000591788.2:c.77-17T>G ENSP00000466341.2:n.77-17T>G
NM_000156.5:c.392-17T>G NP_000147.1:n.392-17T>G
NM_138924.2:c.392-17T>G NP_620279.1:n.392-17T>G
NM_000156.6:c.392-17T>G MANE Select NP_000147.1:n.392-17T>G
NM_138924.3:c.392-17T>G NP_620279.1:n.392-17T>G
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