Canonical Allele Identifier: CA2317699466
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs2082622371

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399763dup , CM000681.2:g.1399763dup GRCh38
NC_000019.9:g.1399762dup , CM000681.1:g.1399762dup GRCh37
NC_000019.8:g.1350762dup NCBI36
NG_009785.1:g.6795dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.327+34dup MANE Select ENSP00000252288.1:n.327+34dup
ENST00000447102.8:c.327+34dup ENSP00000403536.2:n.327+34dup
ENST00000591788.3:c.10+34dup
ENST00000640762.1:c.258+34dup ENSP00000492031.1:n.258+34dup
ENST00000252288.6:c.327+34dup ENSP00000252288.1:n.327+34dup
ENST00000447102.7:c.327+34dup ENSP00000403536.2:n.327+34dup
ENST00000591788.2:c.12+34dup ENSP00000466341.2:n.12+34dup
NM_000156.5:c.327+34dup NP_000147.1:n.327+34dup
NM_138924.2:c.327+34dup NP_620279.1:n.327+34dup
NM_000156.6:c.327+34dup MANE Select NP_000147.1:n.327+34dup
NM_138924.3:c.327+34dup NP_620279.1:n.327+34dup