Canonical Allele Identifier: CA10651424

Linked Data

ClinVar Variation Id: 341896
dbSNP Id: rs886057595

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42059353G>C , CM000684.2:g.42059353G>C GRCh38
NC_000022.10:g.42455357G>C , CM000684.1:g.42455357G>C GRCh37
NC_000022.9:g.40785303G>C NCBI36
NG_009247.1:g.16490C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396398.8:c.*926C>G (NAGA) MANE Select ENSP00000379680.3:n.*926C>G
ENST00000396398.7:c.*926C>G (NAGA) ENSP00000379680.3:n.*926C>G
NM_000262.2:c.*926C>G (NAGA) NP_000253.1:n.*926C>G
XM_005261615.3:c.*926C>G (NAGA) XP_005261672.1:n.*926C>G
XM_005261616.3:c.*926C>G (NAGA) XP_005261673.1:n.*926C>G
XR_937828.1:n.6160G>C (WBP2NL)
XR_937829.1:n.5740G>C (WBP2NL)
NM_001362848.1:c.*926C>G (NAGA) NP_001349777.1:n.*926C>G
NM_001362850.1:c.*926C>G (NAGA) NP_001349779.1:n.*926C>G
XR_937828.3:n.6403G>C (WBP2NL)
NM_000262.3:c.*926C>G (NAGA) MANE Select NP_000253.1:n.*926C>G