Canonical Allele Identifier: CA2657912096

Gene: NBAS

Linked Data

• gnomAD v4: 2-15424188-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424188A>G , CM000664.2:g.15424188A>G	GRCh38
NC_000002.11:g.15564312A>G , CM000664.1:g.15564312A>G	GRCh37
NC_000002.10:g.15481763A>G	NCBI36
NG_032964.1:g.142161T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.674+127T>C
ENST00000700062.1:c.674+127T>C
ENST00000700065.1:n.2590+127T>C
ENST00000700066.1:c.2094+127T>C	ENSP00000514780.1:n.2094+127T>C
ENST00000281513.10:c.2577+127T>C MANE Select	ENSP00000281513.5:n.2577+127T>C
ENST00000281513.9:c.2577+127T>C	ENSP00000281513.5:n.2577+127T>C
ENST00000441755.5:c.78+127T>C	ENSP00000396501.1:n.78+127T>C
ENST00000442506.5:c.80+127T>C
NM_015909.3:c.2577+127T>C	NP_056993.2:n.2577+127T>C
NR_052013.2:n.2621+127T>C
XM_011510357.1:c.2448+127T>C	XP_011508659.1:n.2448+127T>C
XM_011510358.1:c.2577+127T>C	XP_011508660.1:n.2577+127T>C
XM_011510359.1:c.1938+127T>C	XP_011508661.1:n.1938+127T>C
XM_011510360.1:c.378+127T>C	XP_011508662.1:n.378+127T>C
XM_011510361.1:c.369+127T>C	XP_011508663.1:n.369+127T>C
XM_011510357.2:c.2448+127T>C	XP_011508659.1:n.2448+127T>C
XM_011510358.2:c.2577+127T>C	XP_011508660.1:n.2577+127T>C
XM_011510360.2:c.378+127T>C	XP_011508662.1:n.378+127T>C
XM_011510361.2:c.369+127T>C	XP_011508663.1:n.369+127T>C
XM_017004317.1:c.2577+127T>C	XP_016859806.1:n.2577+127T>C
XM_024452961.1:c.1938+127T>C	XP_024308729.1:n.1938+127T>C
NM_015909.4:c.2577+127T>C MANE Select	NP_056993.2:n.2577+127T>C
NR_052013.3:n.2607+127T>C