Canonical Allele Identifier: CA10653614
Community Standard Title: NM_000262.3(NAGA):c.*143C>T
Gene: NAGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42060136G>A , CM000684.2:g.42060136G>A GRCh38
NC_000022.10:g.42456140G>A , CM000684.1:g.42456140G>A GRCh37
NC_000022.9:g.40786086G>A NCBI36
NG_009247.1:g.15707C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000262.3:c.*143C>T MANE Select NP_000253.1:n.*143C>T
ENST00000396398.8:c.*143C>T MANE Select ENSP00000379680.3:n.*143C>T
NM_000262.2:c.*143C>T NP_000253.1:n.*143C>T
NM_001362848.1:c.*143C>T NP_001349777.1:n.*143C>T
NM_001362850.1:c.*143C>T NP_001349779.1:n.*143C>T
ENST00000396398.7:c.*143C>T ENSP00000379680.3:n.*143C>T
ENST00000402937.1:c.*143C>T ENSP00000384603.1:n.*143C>T
ENST00000403363.5:c.*143C>T ENSP00000385283.1:n.*143C>T
XM_005261615.3:c.*143C>T XP_005261672.1:n.*143C>T
XM_005261616.3:c.*143C>T XP_005261673.1:n.*143C>T