Canonical Allele Identifier: CA411766299
Gene: NAGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42061011T>A , CM000684.2:g.42061011T>A GRCh38
NC_000022.10:g.42457015T>A , CM000684.1:g.42457015T>A GRCh37
NC_000022.9:g.40786961T>A NCBI36
NG_009247.1:g.14832A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396398.8:c.1014A>T MANE Select ENSP00000379680.3:p.Leu338Phe
ENST00000396398.7:c.1014A>T ENSP00000379680.3:p.Leu338Phe
ENST00000402937.1:c.1014A>T ENSP00000384603.1:p.Leu338Phe
ENST00000403363.5:c.1014A>T ENSP00000385283.1:p.Leu338Phe
NM_000262.2:c.1014A>T NP_000253.1:p.Leu338Phe
XM_005261615.3:c.1014A>T XP_005261672.1:p.Leu338Phe
XM_005261616.3:c.1014A>T XP_005261673.1:p.Leu338Phe
NM_001362848.1:c.1014A>T NP_001349777.1:p.Leu338Phe
NM_001362850.1:c.1014A>T NP_001349779.1:p.Leu338Phe
NM_000262.3:c.1014A>T MANE Select NP_000253.1:p.Leu338Phe