Canonical Allele Identifier: CA2490796278

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1032710
• ClinVar RCV Id: RCV001334882 ; RCV002546705
• dbSNP Id: rs1666790331
• gnomAD v4: 2-15218978-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218978A>G , CM000664.2:g.15218978A>G	GRCh38
NC_000002.11:g.15359102A>G , CM000664.1:g.15359102A>G	GRCh37
NC_000002.10:g.15276553A>G	NCBI36
NG_032964.1:g.347371T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4223-10T>C
ENST00000700062.1:c.4426+13444T>C
ENST00000700063.1:c.748-10T>C
ENST00000700064.1:c.2093-10T>C
ENST00000281513.10:c.6237-10T>C MANE Select	ENSP00000281513.5:n.6237-10T>C
ENST00000281513.9:c.6237-10T>C	ENSP00000281513.5:n.6237-10T>C
ENST00000417461.5:c.512+13444T>C	ENSP00000392421.1:n.512+13444T>C
ENST00000442506.5:c.3380-10T>C
NM_015909.3:c.6237-10T>C	NP_056993.2:n.6237-10T>C
NR_052013.2:n.6280+13444T>C
XM_011510357.1:c.6108-10T>C	XP_011508659.1:n.6108-10T>C
XM_011510358.1:c.6237-10T>C	XP_011508660.1:n.6237-10T>C
XM_011510359.1:c.5598-10T>C	XP_011508661.1:n.5598-10T>C
XM_011510360.1:c.4038-10T>C	XP_011508662.1:n.4038-10T>C
XM_011510361.1:c.4029-10T>C	XP_011508663.1:n.4029-10T>C
XM_011510357.2:c.6108-10T>C	XP_011508659.1:n.6108-10T>C
XM_011510358.2:c.6237-10T>C	XP_011508660.1:n.6237-10T>C
XM_011510360.2:c.4038-10T>C	XP_011508662.1:n.4038-10T>C
XM_011510361.2:c.4029-10T>C	XP_011508663.1:n.4029-10T>C
XM_017004317.1:c.6237-10T>C	XP_016859806.1:n.6237-10T>C
XM_024452961.1:c.5598-10T>C	XP_024308729.1:n.5598-10T>C
NM_015909.4:c.6237-10T>C MANE Select	NP_056993.2:n.6237-10T>C
NR_052013.3:n.6266+13444T>C