Canonical Allele Identifier: CA345884498
Gene: NBAS HGNC NCBI

Linked Data

ClinVar Variation Id: 1914318
ClinVar RCV Id: RCV002612715
dbSNP Id: rs1172057706
gnomAD v2: 2-15358989-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15218865C>G , CM000664.2:g.15218865C>G GRCh38
NC_000002.11:g.15358989C>G , CM000664.1:g.15358989C>G GRCh37
NC_000002.10:g.15276440C>G NCBI36
NG_032964.1:g.347484G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700061.1:c.4326G>C
ENST00000700062.1:c.4426+13557G>C
ENST00000700063.1:c.851G>C
ENST00000700064.1:c.2196G>C
ENST00000281513.10:c.6340G>C MANE Select ENSP00000281513.5:p.Gly2114Arg
ENST00000281513.9:c.6340G>C ENSP00000281513.5:p.Gly2114Arg
ENST00000417461.5:c.512+13557G>C ENSP00000392421.1:n.512+13557G>C
ENST00000442506.5:c.3483G>C
NM_015909.3:c.6340G>C NP_056993.2:p.Gly2114Arg
NR_052013.2:n.6280+13557G>C
XM_011510357.1:c.6211G>C XP_011508659.1:p.Gly2071Arg
XM_011510358.1:c.6340G>C XP_011508660.1:p.Gly2114Arg
XM_011510359.1:c.5701G>C XP_011508661.1:p.Gly1901Arg
XM_011510360.1:c.4141G>C XP_011508662.1:p.Gly1381Arg
XM_011510361.1:c.4132G>C XP_011508663.1:p.Gly1378Arg
XM_011510357.2:c.6211G>C XP_011508659.1:p.Gly2071Arg
XM_011510358.2:c.6340G>C XP_011508660.1:p.Gly2114Arg
XM_011510360.2:c.4141G>C XP_011508662.1:p.Gly1381Arg
XM_011510361.2:c.4132G>C XP_011508663.1:p.Gly1378Arg
XM_017004317.1:c.6340G>C XP_016859806.1:p.Gly2114Arg
XM_024452961.1:c.5701G>C XP_024308729.1:p.Gly1901Arg
NM_015909.4:c.6340G>C MANE Select NP_056993.2:p.Gly2114Arg
NR_052013.3:n.6266+13557G>C