Canonical Allele Identifier: CA2576680234
Gene: NBAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15218703C>T , CM000664.2:g.15218703C>T GRCh38
NC_000002.11:g.15358827C>T , CM000664.1:g.15358827C>T GRCh37
NC_000002.10:g.15276278C>T NCBI36
NG_032964.1:g.347646G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700061.1:c.4418+70G>A
ENST00000700062.1:c.4426+13719G>A
ENST00000700063.1:c.943+70G>A
ENST00000700064.1:c.2288+70G>A
ENST00000281513.10:c.6432+70G>A MANE Select ENSP00000281513.5:n.6432+70G>A
ENST00000281513.9:c.6432+70G>A ENSP00000281513.5:n.6432+70G>A
ENST00000417461.5:c.512+13719G>A ENSP00000392421.1:n.512+13719G>A
ENST00000442506.5:c.3575+70G>A
NM_015909.3:c.6432+70G>A NP_056993.2:n.6432+70G>A
NR_052013.2:n.6280+13719G>A
XM_011510357.1:c.6303+70G>A XP_011508659.1:n.6303+70G>A
XM_011510358.1:c.6432+70G>A XP_011508660.1:n.6432+70G>A
XM_011510359.1:c.5793+70G>A XP_011508661.1:n.5793+70G>A
XM_011510360.1:c.4233+70G>A XP_011508662.1:n.4233+70G>A
XM_011510361.1:c.4224+70G>A XP_011508663.1:n.4224+70G>A
XM_011510357.2:c.6303+70G>A XP_011508659.1:n.6303+70G>A
XM_011510358.2:c.6432+70G>A XP_011508660.1:n.6432+70G>A
XM_011510360.2:c.4233+70G>A XP_011508662.1:n.4233+70G>A
XM_011510361.2:c.4224+70G>A XP_011508663.1:n.4224+70G>A
XM_017004317.1:c.6432+70G>A XP_016859806.1:n.6432+70G>A
XM_024452961.1:c.5793+70G>A XP_024308729.1:n.5793+70G>A
NM_015909.4:c.6432+70G>A MANE Select NP_056993.2:n.6432+70G>A
NR_052013.3:n.6266+13719G>A