Canonical Allele Identifier: CA783507853
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1482073220

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401552G>A , CM000681.2:g.1401552G>A GRCh38
NC_000019.9:g.1401551G>A , CM000681.1:g.1401551G>A GRCh37
NC_000019.8:g.1352551G>A NCBI36
NG_009785.1:g.5002C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-76C>T ENSP00000403536.2:n.-76C>T
ENST00000447102.7:c.-76C>T ENSP00000403536.2:n.-76C>T
NM_000156.5:c.-76C>T NP_000147.1:n.-76C>T
NM_138924.2:c.-76C>T NP_620279.1:n.-76C>T