Canonical Allele Identifier: CA1027848525
Gene: NBAS HGNC NCBI

Linked Data

dbSNP Id: rs1666766945
gnomAD v3: 2-15218696-G-C
gnomAD v4: 2-15218696-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15218696G>C , CM000664.2:g.15218696G>C GRCh38
NC_000002.11:g.15358820G>C , CM000664.1:g.15358820G>C GRCh37
NC_000002.10:g.15276271G>C NCBI36
NG_032964.1:g.347653C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700061.1:c.4418+77C>G
ENST00000700062.1:c.4426+13726C>G
ENST00000700063.1:c.943+77C>G
ENST00000700064.1:c.2288+77C>G
ENST00000281513.10:c.6432+77C>G MANE Select ENSP00000281513.5:n.6432+77C>G
ENST00000281513.9:c.6432+77C>G ENSP00000281513.5:n.6432+77C>G
ENST00000417461.5:c.512+13726C>G ENSP00000392421.1:n.512+13726C>G
ENST00000442506.5:c.3575+77C>G
NM_015909.3:c.6432+77C>G NP_056993.2:n.6432+77C>G
NR_052013.2:n.6280+13726C>G
XM_011510357.1:c.6303+77C>G XP_011508659.1:n.6303+77C>G
XM_011510358.1:c.6432+77C>G XP_011508660.1:n.6432+77C>G
XM_011510359.1:c.5793+77C>G XP_011508661.1:n.5793+77C>G
XM_011510360.1:c.4233+77C>G XP_011508662.1:n.4233+77C>G
XM_011510361.1:c.4224+77C>G XP_011508663.1:n.4224+77C>G
XM_011510357.2:c.6303+77C>G XP_011508659.1:n.6303+77C>G
XM_011510358.2:c.6432+77C>G XP_011508660.1:n.6432+77C>G
XM_011510360.2:c.4233+77C>G XP_011508662.1:n.4233+77C>G
XM_011510361.2:c.4224+77C>G XP_011508663.1:n.4224+77C>G
XM_017004317.1:c.6432+77C>G XP_016859806.1:n.6432+77C>G
XM_024452961.1:c.5793+77C>G XP_024308729.1:n.5793+77C>G
NM_015909.4:c.6432+77C>G MANE Select NP_056993.2:n.6432+77C>G
NR_052013.3:n.6266+13726C>G