Canonical Allele Identifier: CA1535884

Gene: NBAS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15356395C>T , CM000664.2:g.15356395C>T	GRCh38
NC_000002.11:g.15496519C>T , CM000664.1:g.15496519C>T	GRCh37
NC_000002.10:g.15413970C>T	NCBI36
NG_032964.1:g.209954G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015909.4:c.3839G>A MANE Select	NP_056993.2:p.Arg1280Gln
ENST00000281513.10:c.3839G>A MANE Select	ENSP00000281513.5:p.Arg1280Gln
NM_015909.3:c.3839G>A	NP_056993.2:p.Arg1280Gln
NR_052013.2:n.3883G>A
NR_052013.3:n.3869G>A
ENST00000281513.9:c.3839G>A	ENSP00000281513.5:p.Arg1280Gln
ENST00000442506.5:c.982G>A
ENST00000700061.1:c.1936G>A
ENST00000700062.1:c.2029G>A
ENST00000700065.1:n.3852G>A
XM_011510357.1:c.3710G>A	XP_011508659.1:p.Arg1237Gln
XM_011510357.2:c.3710G>A	XP_011508659.1:p.Arg1237Gln
XM_011510358.1:c.3839G>A	XP_011508660.1:p.Arg1280Gln
XM_011510358.2:c.3839G>A	XP_011508660.1:p.Arg1280Gln
XM_011510359.1:c.3200G>A	XP_011508661.1:p.Arg1067Gln
XM_011510360.1:c.1640G>A	XP_011508662.1:p.Arg547Gln
XM_011510360.2:c.1640G>A	XP_011508662.1:p.Arg547Gln
XM_011510361.1:c.1631G>A	XP_011508663.1:p.Arg544Gln
XM_011510361.2:c.1631G>A	XP_011508663.1:p.Arg544Gln
XM_017004317.1:c.3839G>A	XP_016859806.1:p.Arg1280Gln
XM_024452961.1:c.3200G>A	XP_024308729.1:p.Arg1067Gln