Canonical Allele Identifier: CA2582642001
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401547-G-A

Genomic Alleles

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

Transcript Alleles

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