Canonical Allele Identifier: CA16608969
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 392462
dbSNP Id: rs1057524499
gnomAD v2: 19-1399004-T-A
gnomAD v3: 19-1399005-T-A
gnomAD v4: 19-1399005-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399005T>A , CM000681.2:g.1399005T>A GRCh38
NC_000019.9:g.1399004T>A , CM000681.1:g.1399004T>A GRCh37
NC_000019.8:g.1350004T>A NCBI36
NG_009785.1:g.7549A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.481A>T MANE Select ENSP00000252288.1:p.Lys161Ter
ENST00000447102.8:c.481A>T ENSP00000403536.2:p.Lys161Ter
ENST00000591788.3:c.164A>T
ENST00000640164.1:n.314A>T
ENST00000640762.1:c.412A>T ENSP00000492031.1:p.Lys138Ter
ENST00000252288.6:c.481A>T ENSP00000252288.1:p.Lys161Ter
ENST00000447102.7:c.481A>T ENSP00000403536.2:p.Lys161Ter
ENST00000591788.2:c.166A>T ENSP00000466341.2:p.Lys56Ter
NM_000156.5:c.481A>T NP_000147.1:p.Lys161Ter
NM_138924.2:c.481A>T NP_620279.1:p.Lys161Ter
NM_000156.6:c.481A>T MANE Select NP_000147.1:p.Lys161Ter
NM_138924.3:c.481A>T NP_620279.1:p.Lys161Ter