Canonical Allele Identifier: CA314826
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205591
dbSNP Id: rs796052527
gnomAD v4: 19-1401476-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401476T>C , CM000681.2:g.1401476T>C GRCh38
NC_000019.9:g.1401475T>C , CM000681.1:g.1401475T>C GRCh37
NC_000019.8:g.1352475T>C NCBI36
NG_009785.1:g.5078A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.1A>G MANE Select ENSP00000252288.1:p.Met1Val
ENST00000447102.8:c.1A>G ENSP00000403536.2:p.Met1Val
ENST00000640762.1:c.1A>G ENSP00000492031.1:p.Met1Val
ENST00000252288.6:c.1A>G ENSP00000252288.1:p.Met1Val
ENST00000447102.7:c.1A>G ENSP00000403536.2:p.Met1Val
NM_000156.5:c.1A>G NP_000147.1:p.Met1Val
NM_138924.2:c.1A>G NP_620279.1:p.Met1Val
NM_000156.6:c.1A>G MANE Select NP_000147.1:p.Met1Val
NM_138924.3:c.1A>G NP_620279.1:p.Met1Val