Canonical Allele Identifier: CA402998364
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2412845
gnomAD v4: 19-1401429-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401429G>T , CM000681.2:g.1401429G>T GRCh38
NC_000019.9:g.1401428G>T , CM000681.1:g.1401428G>T GRCh37
NC_000019.8:g.1352428G>T NCBI36
NG_009785.1:g.5125C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.48C>A MANE Select ENSP00000252288.1:p.Cys16Ter
ENST00000447102.8:c.48C>A ENSP00000403536.2:p.Cys16Ter
ENST00000640762.1:c.48C>A ENSP00000492031.1:p.Cys16Ter
ENST00000252288.6:c.48C>A ENSP00000252288.1:p.Cys16Ter
ENST00000447102.7:c.48C>A ENSP00000403536.2:p.Cys16Ter
NM_000156.5:c.48C>A NP_000147.1:p.Cys16Ter
NM_138924.2:c.48C>A NP_620279.1:p.Cys16Ter
NM_000156.6:c.48C>A MANE Select NP_000147.1:p.Cys16Ter
NM_138924.3:c.48C>A NP_620279.1:p.Cys16Ter