Canonical Allele Identifier: CA345884802
Gene: NBAS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15218903C>T , CM000664.2:g.15218903C>T GRCh38
NC_000002.11:g.15359027C>T , CM000664.1:g.15359027C>T GRCh37
NC_000002.10:g.15276478C>T NCBI36
NG_032964.1:g.347446G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700061.1:c.4288G>A
ENST00000700062.1:c.4426+13519G>A
ENST00000700063.1:c.813G>A
ENST00000700064.1:c.2158G>A
ENST00000281513.10:c.6302G>A MANE Select ENSP00000281513.5:p.Trp2101Ter
ENST00000281513.9:c.6302G>A ENSP00000281513.5:p.Trp2101Ter
ENST00000417461.5:c.512+13519G>A ENSP00000392421.1:n.512+13519G>A
ENST00000442506.5:c.3445G>A
NM_015909.3:c.6302G>A NP_056993.2:p.Trp2101Ter
NR_052013.2:n.6280+13519G>A
XM_011510357.1:c.6173G>A XP_011508659.1:p.Trp2058Ter
XM_011510358.1:c.6302G>A XP_011508660.1:p.Trp2101Ter
XM_011510359.1:c.5663G>A XP_011508661.1:p.Trp1888Ter
XM_011510360.1:c.4103G>A XP_011508662.1:p.Trp1368Ter
XM_011510361.1:c.4094G>A XP_011508663.1:p.Trp1365Ter
XM_011510357.2:c.6173G>A XP_011508659.1:p.Trp2058Ter
XM_011510358.2:c.6302G>A XP_011508660.1:p.Trp2101Ter
XM_011510360.2:c.4103G>A XP_011508662.1:p.Trp1368Ter
XM_011510361.2:c.4094G>A XP_011508663.1:p.Trp1365Ter
XM_017004317.1:c.6302G>A XP_016859806.1:p.Trp2101Ter
XM_024452961.1:c.5663G>A XP_024308729.1:p.Trp1888Ter
NM_015909.4:c.6302G>A MANE Select NP_056993.2:p.Trp2101Ter
NR_052013.3:n.6266+13519G>A