Canonical Allele Identifier: CA2657911733
Gene: NBAS HGNC NCBI

Linked Data

gnomAD v4: 2-15402350-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15402350A>G , CM000664.2:g.15402350A>G GRCh38
NC_000002.11:g.15542474A>G , CM000664.1:g.15542474A>G GRCh37
NC_000002.10:g.15459925A>G NCBI36
NG_032964.1:g.163999T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700061.1:c.1035-49T>C
ENST00000700062.1:c.1035-49T>C
ENST00000700065.1:n.2951-49T>C
ENST00000281513.10:c.2938-49T>C MANE Select ENSP00000281513.5:n.2938-49T>C
ENST00000281513.9:c.2938-49T>C ENSP00000281513.5:n.2938-49T>C
ENST00000429842.1:c.230-49T>C
ENST00000441755.5:c.79-49T>C ENSP00000396501.1:n.79-49T>C
ENST00000442506.5:c.81-49T>C
NM_015909.3:c.2938-49T>C NP_056993.2:n.2938-49T>C
NR_052013.2:n.2982-49T>C
XM_011510357.1:c.2809-49T>C XP_011508659.1:n.2809-49T>C
XM_011510358.1:c.2938-49T>C XP_011508660.1:n.2938-49T>C
XM_011510359.1:c.2299-49T>C XP_011508661.1:n.2299-49T>C
XM_011510360.1:c.739-49T>C XP_011508662.1:n.739-49T>C
XM_011510361.1:c.730-49T>C XP_011508663.1:n.730-49T>C
XM_011510357.2:c.2809-49T>C XP_011508659.1:n.2809-49T>C
XM_011510358.2:c.2938-49T>C XP_011508660.1:n.2938-49T>C
XM_011510360.2:c.739-49T>C XP_011508662.1:n.739-49T>C
XM_011510361.2:c.730-49T>C XP_011508663.1:n.730-49T>C
XM_017004317.1:c.2938-49T>C XP_016859806.1:n.2938-49T>C
XM_024452961.1:c.2299-49T>C XP_024308729.1:n.2299-49T>C
NM_015909.4:c.2938-49T>C MANE Select NP_056993.2:n.2938-49T>C
NR_052013.3:n.2968-49T>C