Canonical Allele Identifier: CA2657912148

Gene: NBAS

Linked Data

• gnomAD v4: 2-15424254-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424254T>A , CM000664.2:g.15424254T>A	GRCh38
NC_000002.11:g.15564378T>A , CM000664.1:g.15564378T>A	GRCh37
NC_000002.10:g.15481829T>A	NCBI36
NG_032964.1:g.142095A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.674+61A>T
ENST00000700062.1:c.674+61A>T
ENST00000700065.1:n.2590+61A>T
ENST00000700066.1:c.2094+61A>T	ENSP00000514780.1:n.2094+61A>T
ENST00000281513.10:c.2577+61A>T MANE Select	ENSP00000281513.5:n.2577+61A>T
ENST00000281513.9:c.2577+61A>T	ENSP00000281513.5:n.2577+61A>T
ENST00000441755.5:c.78+61A>T	ENSP00000396501.1:n.78+61A>T
ENST00000442506.5:c.80+61A>T
NM_015909.3:c.2577+61A>T	NP_056993.2:n.2577+61A>T
NR_052013.2:n.2621+61A>T
XM_011510357.1:c.2448+61A>T	XP_011508659.1:n.2448+61A>T
XM_011510358.1:c.2577+61A>T	XP_011508660.1:n.2577+61A>T
XM_011510359.1:c.1938+61A>T	XP_011508661.1:n.1938+61A>T
XM_011510360.1:c.378+61A>T	XP_011508662.1:n.378+61A>T
XM_011510361.1:c.369+61A>T	XP_011508663.1:n.369+61A>T
XM_011510357.2:c.2448+61A>T	XP_011508659.1:n.2448+61A>T
XM_011510358.2:c.2577+61A>T	XP_011508660.1:n.2577+61A>T
XM_011510360.2:c.378+61A>T	XP_011508662.1:n.378+61A>T
XM_011510361.2:c.369+61A>T	XP_011508663.1:n.369+61A>T
XM_017004317.1:c.2577+61A>T	XP_016859806.1:n.2577+61A>T
XM_024452961.1:c.1938+61A>T	XP_024308729.1:n.1938+61A>T
NM_015909.4:c.2577+61A>T MANE Select	NP_056993.2:n.2577+61A>T
NR_052013.3:n.2607+61A>T