Canonical Allele Identifier: CA345890147
Gene: NBAS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15424432T>A , CM000664.2:g.15424432T>A GRCh38
NC_000002.11:g.15564556T>A , CM000664.1:g.15564556T>A GRCh37
NC_000002.10:g.15482007T>A NCBI36
NG_032964.1:g.141917A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700061.1:c.557A>T
ENST00000700062.1:c.557A>T
ENST00000700065.1:n.2473A>T
ENST00000700066.1:c.1977A>T ENSP00000514780.1:p.Glu659Asp
ENST00000281513.10:c.2460A>T MANE Select ENSP00000281513.5:p.Glu820Asp
ENST00000281513.9:c.2460A>T ENSP00000281513.5:p.Glu820Asp
NM_015909.3:c.2460A>T NP_056993.2:p.Glu820Asp
NR_052013.2:n.2504A>T
XM_011510357.1:c.2331A>T XP_011508659.1:p.Glu777Asp
XM_011510358.1:c.2460A>T XP_011508660.1:p.Glu820Asp
XM_011510359.1:c.1821A>T XP_011508661.1:p.Glu607Asp
XM_011510360.1:c.261A>T XP_011508662.1:p.Glu87Asp
XM_011510361.1:c.252A>T XP_011508663.1:p.Glu84Asp
XM_011510357.2:c.2331A>T XP_011508659.1:p.Glu777Asp
XM_011510358.2:c.2460A>T XP_011508660.1:p.Glu820Asp
XM_011510360.2:c.261A>T XP_011508662.1:p.Glu87Asp
XM_011510361.2:c.252A>T XP_011508663.1:p.Glu84Asp
XM_017004317.1:c.2460A>T XP_016859806.1:p.Glu820Asp
XM_024452961.1:c.1821A>T XP_024308729.1:p.Glu607Asp
NM_015909.4:c.2460A>T MANE Select NP_056993.2:p.Glu820Asp
NR_052013.3:n.2490A>T