Canonical Allele Identifier: CA9043669
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 544257
dbSNP Id: rs374724533
gnomAD v2: 19-1399179-G-A
gnomAD v3: 19-1399180-G-A
gnomAD v4: 19-1399180-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399180G>A , CM000681.2:g.1399180G>A GRCh38
NC_000019.9:g.1399179G>A , CM000681.1:g.1399179G>A GRCh37
NC_000019.8:g.1350179G>A NCBI36
NG_009785.1:g.7374C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.407C>T MANE Select ENSP00000252288.1:p.Thr136Met
ENST00000447102.8:c.407C>T ENSP00000403536.2:p.Thr136Met
ENST00000591788.3:c.90C>T
ENST00000640164.1:n.240C>T
ENST00000640762.1:c.338C>T ENSP00000492031.1:p.Thr113Met
ENST00000252288.6:c.407C>T ENSP00000252288.1:p.Thr136Met
ENST00000447102.7:c.407C>T ENSP00000403536.2:p.Thr136Met
ENST00000591788.2:c.92C>T ENSP00000466341.2:p.Thr31Met
NM_000156.5:c.407C>T NP_000147.1:p.Thr136Met
NM_138924.2:c.407C>T NP_620279.1:p.Thr136Met
NM_000156.6:c.407C>T MANE Select NP_000147.1:p.Thr136Met
NM_138924.3:c.407C>T NP_620279.1:p.Thr136Met