Canonical Allele Identifier: CA514678590
Gene: NAGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.42463868G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42067864G>C , CM000684.2:g.42067864G>C GRCh38
NC_000022.10:g.42463868G>C , CM000684.1:g.42463868G>C GRCh37
NC_000022.9:g.40793814G>C NCBI36
NG_009247.1:g.7979C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396398.8:c.225C>G MANE Select ENSP00000379680.3:p.Leu75=
ENST00000396398.7:c.225C>G ENSP00000379680.3:p.Leu75=
ENST00000402937.1:c.225C>G ENSP00000384603.1:p.Leu75=
ENST00000403363.5:c.225C>G ENSP00000385283.1:p.Leu75=
NM_000262.2:c.225C>G NP_000253.1:p.Leu75=
XM_005261615.3:c.225C>G XP_005261672.1:p.Leu75=
XM_005261616.3:c.225C>G XP_005261673.1:p.Leu75=
NM_001362848.1:c.225C>G NP_001349777.1:p.Leu75=
NM_001362850.1:c.225C>G NP_001349779.1:p.Leu75=
NM_000262.3:c.225C>G MANE Select NP_000253.1:p.Leu75=