Canonical Allele Identifier: CA2573133153

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1551210
• ClinVar RCV Id: RCV002177882
• dbSNP Id: rs2147884032

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218762C>T , CM000664.2:g.15218762C>T	GRCh38
NC_000002.11:g.15358886C>T , CM000664.1:g.15358886C>T	GRCh37
NC_000002.10:g.15276337C>T	NCBI36
NG_032964.1:g.347587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4418+11G>A
ENST00000700062.1:c.4426+13660G>A
ENST00000700063.1:c.943+11G>A
ENST00000700064.1:c.2288+11G>A
ENST00000281513.10:c.6432+11G>A MANE Select	ENSP00000281513.5:n.6432+11G>A
ENST00000281513.9:c.6432+11G>A	ENSP00000281513.5:n.6432+11G>A
ENST00000417461.5:c.512+13660G>A	ENSP00000392421.1:n.512+13660G>A
ENST00000442506.5:c.3575+11G>A
NM_015909.3:c.6432+11G>A	NP_056993.2:n.6432+11G>A
NR_052013.2:n.6280+13660G>A
XM_011510357.1:c.6303+11G>A	XP_011508659.1:n.6303+11G>A
XM_011510358.1:c.6432+11G>A	XP_011508660.1:n.6432+11G>A
XM_011510359.1:c.5793+11G>A	XP_011508661.1:n.5793+11G>A
XM_011510360.1:c.4233+11G>A	XP_011508662.1:n.4233+11G>A
XM_011510361.1:c.4224+11G>A	XP_011508663.1:n.4224+11G>A
XM_011510357.2:c.6303+11G>A	XP_011508659.1:n.6303+11G>A
XM_011510358.2:c.6432+11G>A	XP_011508660.1:n.6432+11G>A
XM_011510360.2:c.4233+11G>A	XP_011508662.1:n.4233+11G>A
XM_011510361.2:c.4224+11G>A	XP_011508663.1:n.4224+11G>A
XM_017004317.1:c.6432+11G>A	XP_016859806.1:n.6432+11G>A
XM_024452961.1:c.5793+11G>A	XP_024308729.1:n.5793+11G>A
NM_015909.4:c.6432+11G>A MANE Select	NP_056993.2:n.6432+11G>A
NR_052013.3:n.6266+13660G>A