Canonical Allele Identifier: CA402996206
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399814-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399814C>A , CM000681.2:g.1399814C>A GRCh38
NC_000019.9:g.1399813C>A , CM000681.1:g.1399813C>A GRCh37
NC_000019.8:g.1350813C>A NCBI36
NG_009785.1:g.6740G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.306G>T MANE Select ENSP00000252288.1:p.Trp102Cys
ENST00000447102.8:c.306G>T ENSP00000403536.2:p.Trp102Cys
ENST00000640762.1:c.237G>T ENSP00000492031.1:p.Trp79Cys
ENST00000252288.6:c.306G>T ENSP00000252288.1:p.Trp102Cys
ENST00000447102.7:c.306G>T ENSP00000403536.2:p.Trp102Cys
NM_000156.5:c.306G>T NP_000147.1:p.Trp102Cys
NM_138924.2:c.306G>T NP_620279.1:p.Trp102Cys
NM_000156.6:c.306G>T MANE Select NP_000147.1:p.Trp102Cys
NM_138924.3:c.306G>T NP_620279.1:p.Trp102Cys