Canonical Allele Identifier: CA2582642022
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401565-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401565A>C , CM000681.2:g.1401565A>C GRCh38
NC_000019.9:g.1401564A>C , CM000681.1:g.1401564A>C GRCh37
NC_000019.8:g.1352564A>C NCBI36
NG_009785.1:g.4989T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-89T>G ENSP00000403536.2:n.-89T>G
ENST00000447102.7:c.-89T>G ENSP00000403536.2:n.-89T>G
NM_000156.5:c.-89T>G NP_000147.1:n.-89T>G
NM_138924.2:c.-89T>G NP_620279.1:n.-89T>G