Canonical Allele Identifier: CA631301057
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 858462
dbSNP Id: rs1460147564

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401447_1401472dup , CM000681.2:g.1401447_1401472dup GRCh38
NC_000019.9:g.1401446_1401471dup , CM000681.1:g.1401446_1401471dup GRCh37
NC_000019.8:g.1352446_1352471dup NCBI36
NG_009785.1:g.5088_5113dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.11_36dup MANE Select ENSP00000252288.1:p.Gly13ProfsTer38
ENST00000447102.8:c.11_36dup ENSP00000403536.2:p.Gly13ProfsTer38
ENST00000640762.1:c.11_36dup ENSP00000492031.1:p.Gly13ProfsTer?
ENST00000252288.6:c.11_36dup ENSP00000252288.1:p.Gly13ProfsTer38
ENST00000447102.7:c.11_36dup ENSP00000403536.2:p.Gly13ProfsTer38
NM_000156.5:c.11_36dup NP_000147.1:p.Gly13ProfsTer38
NM_138924.2:c.11_36dup NP_620279.1:p.Gly13ProfsTer38
NM_000156.6:c.11_36dup MANE Select NP_000147.1:p.Gly13ProfsTer38
NM_138924.3:c.11_36dup NP_620279.1:p.Gly13ProfsTer38