Canonical Allele Identifier: CA2813256144
Gene: GAMT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401457dup , CM000681.2:g.1401457dup GRCh38
NC_000019.9:g.1401456dup , CM000681.1:g.1401456dup GRCh37
NC_000019.8:g.1352456dup NCBI36
NG_009785.1:g.5101dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.24dup MANE Select ENSP00000252288.1:p.Ile9HisfsTer?
ENST00000447102.8:c.24dup ENSP00000403536.2:p.Ile9HisfsTer?
ENST00000640762.1:c.24dup ENSP00000492031.1:p.Ile9HisfsTer?
ENST00000252288.6:c.24dup ENSP00000252288.1:p.Ile9HisfsTer?
ENST00000447102.7:c.24dup ENSP00000403536.2:p.Ile9HisfsTer?
NM_000156.5:c.24dup NP_000147.1:p.Ile9HisfsTer?
NM_138924.2:c.24dup NP_620279.1:p.Ile9HisfsTer?
NM_000156.6:c.24dup MANE Select NP_000147.1:p.Ile9HisfsTer?
NM_138924.3:c.24dup NP_620279.1:p.Ile9HisfsTer?
Search 100 bp 5'
Search 100 bp 3'