Canonical Allele Identifier: CA2657930774

Gene: NBAS

Linked Data

• gnomAD v4: 2-15219088-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15219088C>A , CM000664.2:g.15219088C>A	GRCh38
NC_000002.11:g.15359212C>A , CM000664.1:g.15359212C>A	GRCh37
NC_000002.10:g.15276663C>A	NCBI36
NG_032964.1:g.347261G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4223-120G>T
ENST00000700062.1:c.4426+13334G>T
ENST00000700063.1:c.748-120G>T
ENST00000700064.1:c.2093-120G>T
ENST00000281513.10:c.6237-120G>T MANE Select	ENSP00000281513.5:n.6237-120G>T
ENST00000281513.9:c.6237-120G>T	ENSP00000281513.5:n.6237-120G>T
ENST00000417461.5:c.512+13334G>T	ENSP00000392421.1:n.512+13334G>T
ENST00000442506.5:c.3380-120G>T
NM_015909.3:c.6237-120G>T	NP_056993.2:n.6237-120G>T
NR_052013.2:n.6280+13334G>T
XM_011510357.1:c.6108-120G>T	XP_011508659.1:n.6108-120G>T
XM_011510358.1:c.6237-120G>T	XP_011508660.1:n.6237-120G>T
XM_011510359.1:c.5598-120G>T	XP_011508661.1:n.5598-120G>T
XM_011510360.1:c.4038-120G>T	XP_011508662.1:n.4038-120G>T
XM_011510361.1:c.4029-120G>T	XP_011508663.1:n.4029-120G>T
XM_011510357.2:c.6108-120G>T	XP_011508659.1:n.6108-120G>T
XM_011510358.2:c.6237-120G>T	XP_011508660.1:n.6237-120G>T
XM_011510360.2:c.4038-120G>T	XP_011508662.1:n.4038-120G>T
XM_011510361.2:c.4029-120G>T	XP_011508663.1:n.4029-120G>T
XM_017004317.1:c.6237-120G>T	XP_016859806.1:n.6237-120G>T
XM_024452961.1:c.5598-120G>T	XP_024308729.1:n.5598-120G>T
NM_015909.4:c.6237-120G>T MANE Select	NP_056993.2:n.6237-120G>T
NR_052013.3:n.6266+13334G>T