Canonical Allele Identifier: CA402998335
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401421-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401421G>A , CM000681.2:g.1401421G>A GRCh38
NC_000019.9:g.1401420G>A , CM000681.1:g.1401420G>A GRCh37
NC_000019.8:g.1352420G>A NCBI36
NG_009785.1:g.5133C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.56C>T MANE Select ENSP00000252288.1:p.Ala19Val
ENST00000447102.8:c.56C>T ENSP00000403536.2:p.Ala19Val
ENST00000640762.1:c.56C>T ENSP00000492031.1:p.Ala19Val
ENST00000252288.6:c.56C>T ENSP00000252288.1:p.Ala19Val
ENST00000447102.7:c.56C>T ENSP00000403536.2:p.Ala19Val
NM_000156.5:c.56C>T NP_000147.1:p.Ala19Val
NM_138924.2:c.56C>T NP_620279.1:p.Ala19Val
NM_000156.6:c.56C>T MANE Select NP_000147.1:p.Ala19Val
NM_138924.3:c.56C>T NP_620279.1:p.Ala19Val