Canonical Allele Identifier: CA2582641074
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399054-G-GGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399055_1399056dup , CM000681.2:g.1399055_1399056dup GRCh38
NC_000019.9:g.1399054_1399055dup , CM000681.1:g.1399054_1399055dup GRCh37
NC_000019.8:g.1350054_1350055dup NCBI36
NG_009785.1:g.7498_7499dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.460-30_460-29dup MANE Select ENSP00000252288.1:n.460-30_460-29dup
ENST00000447102.8:c.460-30_460-29dup ENSP00000403536.2:n.460-30_460-29dup
ENST00000591788.3:c.143-30_143-29dup
ENST00000640164.1:n.293-30_293-29dup
ENST00000640762.1:c.391-30_391-29dup ENSP00000492031.1:n.391-30_391-29dup
ENST00000252288.6:c.460-30_460-29dup ENSP00000252288.1:n.460-30_460-29dup
ENST00000447102.7:c.460-30_460-29dup ENSP00000403536.2:n.460-30_460-29dup
ENST00000591788.2:c.145-30_145-29dup ENSP00000466341.2:n.145-30_145-29dup
NM_000156.5:c.460-30_460-29dup NP_000147.1:n.460-30_460-29dup
NM_138924.2:c.460-30_460-29dup NP_620279.1:n.460-30_460-29dup
NM_000156.6:c.460-30_460-29dup MANE Select NP_000147.1:n.460-30_460-29dup
NM_138924.3:c.460-30_460-29dup NP_620279.1:n.460-30_460-29dup
Search 100 bp 5'
Search 100 bp 3'