Canonical Allele Identifier: CA2739276353
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2811113
ClinVar RCV Id: RCV003746985
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399204A>G , CM000681.2:g.1399204A>G GRCh38
NC_000019.9:g.1399203A>G , CM000681.1:g.1399203A>G GRCh37
NC_000019.8:g.1350203A>G NCBI36
NG_009785.1:g.7350T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-9T>C MANE Select ENSP00000252288.1:n.392-9T>C
ENST00000447102.8:c.392-9T>C ENSP00000403536.2:n.392-9T>C
ENST00000591788.3:c.75-9T>C
ENST00000640164.1:n.225-9T>C
ENST00000640762.1:c.323-9T>C ENSP00000492031.1:n.323-9T>C
ENST00000252288.6:c.392-9T>C ENSP00000252288.1:n.392-9T>C
ENST00000447102.7:c.392-9T>C ENSP00000403536.2:n.392-9T>C
ENST00000591788.2:c.77-9T>C ENSP00000466341.2:n.77-9T>C
NM_000156.5:c.392-9T>C NP_000147.1:n.392-9T>C
NM_138924.2:c.392-9T>C NP_620279.1:n.392-9T>C
NM_000156.6:c.392-9T>C MANE Select NP_000147.1:n.392-9T>C
NM_138924.3:c.392-9T>C NP_620279.1:n.392-9T>C
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