Canonical Allele Identifier: CA2317699247
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs2082619887
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399370T>A , CM000681.2:g.1399370T>A GRCh38
NC_000019.9:g.1399369T>A , CM000681.1:g.1399369T>A GRCh37
NC_000019.8:g.1350369T>A NCBI36
NG_009785.1:g.7184A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.391+154A>T MANE Select ENSP00000252288.1:n.391+154A>T
ENST00000447102.8:c.391+154A>T ENSP00000403536.2:n.391+154A>T
ENST00000591788.3:c.74+154A>T
ENST00000640164.1:n.224+154A>T
ENST00000640762.1:c.322+154A>T ENSP00000492031.1:n.322+154A>T
ENST00000252288.6:c.391+154A>T ENSP00000252288.1:n.391+154A>T
ENST00000447102.7:c.391+154A>T ENSP00000403536.2:n.391+154A>T
ENST00000591788.2:c.76+154A>T ENSP00000466341.2:n.76+154A>T
NM_000156.5:c.391+154A>T NP_000147.1:n.391+154A>T
NM_138924.2:c.391+154A>T NP_620279.1:n.391+154A>T
NM_000156.6:c.391+154A>T MANE Select NP_000147.1:n.391+154A>T
NM_138924.3:c.391+154A>T NP_620279.1:n.391+154A>T
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