Canonical Allele Identifier: CA2813256026
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399285C>A , CM000681.2:g.1399285C>A GRCh38
NC_000019.9:g.1399284C>A , CM000681.1:g.1399284C>A GRCh37
NC_000019.8:g.1350284C>A NCBI36
NG_009785.1:g.7269G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-90G>T MANE Select ENSP00000252288.1:n.392-90G>T
ENST00000447102.8:c.392-90G>T ENSP00000403536.2:n.392-90G>T
ENST00000591788.3:c.75-90G>T
ENST00000640164.1:n.225-90G>T
ENST00000640762.1:c.323-90G>T ENSP00000492031.1:n.323-90G>T
ENST00000252288.6:c.392-90G>T ENSP00000252288.1:n.392-90G>T
ENST00000447102.7:c.392-90G>T ENSP00000403536.2:n.392-90G>T
ENST00000591788.2:c.77-90G>T ENSP00000466341.2:n.77-90G>T
NM_000156.5:c.392-90G>T NP_000147.1:n.392-90G>T
NM_138924.2:c.392-90G>T NP_620279.1:n.392-90G>T
NM_000156.6:c.392-90G>T MANE Select NP_000147.1:n.392-90G>T
NM_138924.3:c.392-90G>T NP_620279.1:n.392-90G>T
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