Canonical Allele Identifier: CA42584333
Gene: NBAS HGNC NCBI

Linked Data

ClinVar Variation Id: 1985881
ClinVar RCV Id: RCV002805364
dbSNP Id: rs375991089
gnomAD v2: 2-15358947-C-G
gnomAD v3: 2-15218823-C-G
gnomAD v4: 2-15218823-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15218823C>G , CM000664.2:g.15218823C>G GRCh38
NC_000002.11:g.15358947C>G , CM000664.1:g.15358947C>G GRCh37
NC_000002.10:g.15276398C>G NCBI36
NG_032964.1:g.347526G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700061.1:c.4368G>C
ENST00000700062.1:c.4426+13599G>C
ENST00000700063.1:c.893G>C
ENST00000700064.1:c.2238G>C
ENST00000281513.10:c.6382G>C MANE Select ENSP00000281513.5:p.Val2128Leu
ENST00000281513.9:c.6382G>C ENSP00000281513.5:p.Val2128Leu
ENST00000417461.5:c.512+13599G>C ENSP00000392421.1:n.512+13599G>C
ENST00000442506.5:c.3525G>C
NM_015909.3:c.6382G>C NP_056993.2:p.Val2128Leu
NR_052013.2:n.6280+13599G>C
XM_011510357.1:c.6253G>C XP_011508659.1:p.Val2085Leu
XM_011510358.1:c.6382G>C XP_011508660.1:p.Val2128Leu
XM_011510359.1:c.5743G>C XP_011508661.1:p.Val1915Leu
XM_011510360.1:c.4183G>C XP_011508662.1:p.Val1395Leu
XM_011510361.1:c.4174G>C XP_011508663.1:p.Val1392Leu
XM_011510357.2:c.6253G>C XP_011508659.1:p.Val2085Leu
XM_011510358.2:c.6382G>C XP_011508660.1:p.Val2128Leu
XM_011510360.2:c.4183G>C XP_011508662.1:p.Val1395Leu
XM_011510361.2:c.4174G>C XP_011508663.1:p.Val1392Leu
XM_017004317.1:c.6382G>C XP_016859806.1:p.Val2128Leu
XM_024452961.1:c.5743G>C XP_024308729.1:p.Val1915Leu
NM_015909.4:c.6382G>C MANE Select NP_056993.2:p.Val2128Leu
NR_052013.3:n.6266+13599G>C