Canonical Allele Identifier: CA504731736
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 544263
dbSNP Id: rs1262796024
gnomAD v3: 19-1401438-G-T
gnomAD v4: 19-1401438-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401438G>T , CM000681.2:g.1401438G>T GRCh38
NC_000019.9:g.1401437G>T , CM000681.1:g.1401437G>T GRCh37
NC_000019.8:g.1352437G>T NCBI36
NG_009785.1:g.5116C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.39C>A MANE Select ENSP00000252288.1:p.Gly13=
ENST00000447102.8:c.39C>A ENSP00000403536.2:p.Gly13=
ENST00000640762.1:c.39C>A ENSP00000492031.1:p.Gly13=
ENST00000252288.6:c.39C>A ENSP00000252288.1:p.Gly13=
ENST00000447102.7:c.39C>A ENSP00000403536.2:p.Gly13=
NM_000156.5:c.39C>A NP_000147.1:p.Gly13=
NM_138924.2:c.39C>A NP_620279.1:p.Gly13=
NM_000156.6:c.39C>A MANE Select NP_000147.1:p.Gly13=
NM_138924.3:c.39C>A NP_620279.1:p.Gly13=