Canonical Allele Identifier: CA2317699202
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1035762506
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399290A>G , CM000681.2:g.1399290A>G GRCh38
NC_000019.9:g.1399289A>G , CM000681.1:g.1399289A>G GRCh37
NC_000019.8:g.1350289A>G NCBI36
NG_009785.1:g.7264T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-95T>C MANE Select ENSP00000252288.1:n.392-95T>C
ENST00000447102.8:c.392-95T>C ENSP00000403536.2:n.392-95T>C
ENST00000591788.3:c.75-95T>C
ENST00000640164.1:n.225-95T>C
ENST00000640762.1:c.323-95T>C ENSP00000492031.1:n.323-95T>C
ENST00000252288.6:c.392-95T>C ENSP00000252288.1:n.392-95T>C
ENST00000447102.7:c.392-95T>C ENSP00000403536.2:n.392-95T>C
ENST00000591788.2:c.77-95T>C ENSP00000466341.2:n.77-95T>C
NM_000156.5:c.392-95T>C NP_000147.1:n.392-95T>C
NM_138924.2:c.392-95T>C NP_620279.1:n.392-95T>C
NM_000156.6:c.392-95T>C MANE Select NP_000147.1:n.392-95T>C
NM_138924.3:c.392-95T>C NP_620279.1:n.392-95T>C
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