Canonical Allele Identifier: CA2582641152
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399311-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399315dup , CM000681.2:g.1399315dup GRCh38
NC_000019.9:g.1399314dup , CM000681.1:g.1399314dup GRCh37
NC_000019.8:g.1350314dup NCBI36
NG_009785.1:g.7242dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-117dup MANE Select ENSP00000252288.1:n.392-117dup
ENST00000447102.8:c.392-117dup ENSP00000403536.2:n.392-117dup
ENST00000591788.3:c.75-117dup
ENST00000640164.1:n.225-117dup
ENST00000640762.1:c.323-117dup ENSP00000492031.1:n.323-117dup
ENST00000252288.6:c.392-117dup ENSP00000252288.1:n.392-117dup
ENST00000447102.7:c.392-117dup ENSP00000403536.2:n.392-117dup
ENST00000591788.2:c.77-117dup ENSP00000466341.2:n.77-117dup
NM_000156.5:c.392-117dup NP_000147.1:n.392-117dup
NM_138924.2:c.392-117dup NP_620279.1:n.392-117dup
NM_000156.6:c.392-117dup MANE Select NP_000147.1:n.392-117dup
NM_138924.3:c.392-117dup NP_620279.1:n.392-117dup
Search 100 bp 5'
Search 100 bp 3'