Canonical Allele Identifier: CA402998053
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2138184

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401325T>G , CM000681.2:g.1401325T>G GRCh38
NC_000019.9:g.1401324T>G , CM000681.1:g.1401324T>G GRCh37
NC_000019.8:g.1352324T>G NCBI36
NG_009785.1:g.5229A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.152A>C MANE Select ENSP00000252288.1:p.His51Pro
ENST00000447102.8:c.152A>C ENSP00000403536.2:p.His51Pro
ENST00000640762.1:c.112+40A>C ENSP00000492031.1:n.112+40A>C
ENST00000252288.6:c.152A>C ENSP00000252288.1:p.His51Pro
ENST00000447102.7:c.152A>C ENSP00000403536.2:p.His51Pro
NM_000156.5:c.152A>C NP_000147.1:p.His51Pro
NM_138924.2:c.152A>C NP_620279.1:p.His51Pro
NM_000156.6:c.152A>C MANE Select NP_000147.1:p.His51Pro
NM_138924.3:c.152A>C NP_620279.1:p.His51Pro