Canonical Allele Identifier: CA2657912133

Gene: NBAS

Linked Data

• gnomAD v4: 2-15424232-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424232A>C , CM000664.2:g.15424232A>C	GRCh38
NC_000002.11:g.15564356A>C , CM000664.1:g.15564356A>C	GRCh37
NC_000002.10:g.15481807A>C	NCBI36
NG_032964.1:g.142117T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.674+83T>G
ENST00000700062.1:c.674+83T>G
ENST00000700065.1:n.2590+83T>G
ENST00000700066.1:c.2094+83T>G	ENSP00000514780.1:n.2094+83T>G
ENST00000281513.10:c.2577+83T>G MANE Select	ENSP00000281513.5:n.2577+83T>G
ENST00000281513.9:c.2577+83T>G	ENSP00000281513.5:n.2577+83T>G
ENST00000441755.5:c.78+83T>G	ENSP00000396501.1:n.78+83T>G
ENST00000442506.5:c.80+83T>G
NM_015909.3:c.2577+83T>G	NP_056993.2:n.2577+83T>G
NR_052013.2:n.2621+83T>G
XM_011510357.1:c.2448+83T>G	XP_011508659.1:n.2448+83T>G
XM_011510358.1:c.2577+83T>G	XP_011508660.1:n.2577+83T>G
XM_011510359.1:c.1938+83T>G	XP_011508661.1:n.1938+83T>G
XM_011510360.1:c.378+83T>G	XP_011508662.1:n.378+83T>G
XM_011510361.1:c.369+83T>G	XP_011508663.1:n.369+83T>G
XM_011510357.2:c.2448+83T>G	XP_011508659.1:n.2448+83T>G
XM_011510358.2:c.2577+83T>G	XP_011508660.1:n.2577+83T>G
XM_011510360.2:c.378+83T>G	XP_011508662.1:n.378+83T>G
XM_011510361.2:c.369+83T>G	XP_011508663.1:n.369+83T>G
XM_017004317.1:c.2577+83T>G	XP_016859806.1:n.2577+83T>G
XM_024452961.1:c.1938+83T>G	XP_024308729.1:n.1938+83T>G
NM_015909.4:c.2577+83T>G MANE Select	NP_056993.2:n.2577+83T>G
NR_052013.3:n.2607+83T>G