Canonical Allele Identifier: CA2582642002
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401547-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401547G>T , CM000681.2:g.1401547G>T GRCh38
NC_000019.9:g.1401546G>T , CM000681.1:g.1401546G>T GRCh37
NC_000019.8:g.1352546G>T NCBI36
NG_009785.1:g.5007C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-71C>A ENSP00000403536.2:n.-71C>A
ENST00000447102.7:c.-71C>A ENSP00000403536.2:n.-71C>A
NM_000156.5:c.-71C>A NP_000147.1:n.-71C>A
NM_138924.2:c.-71C>A NP_620279.1:n.-71C>A