Canonical Allele Identifier: CA424868939

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542330G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402206G>A , CM000664.2:g.15402206G>A	GRCh38
NC_000002.11:g.15542330G>A , CM000664.1:g.15542330G>A	GRCh37
NC_000002.10:g.15459781G>A	NCBI36
NG_032964.1:g.164143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1130C>T
ENST00000700062.1:c.1130C>T
ENST00000700065.1:n.3046C>T
ENST00000281513.10:c.3033C>T MANE Select	ENSP00000281513.5:p.Cys1011=
ENST00000281513.9:c.3033C>T	ENSP00000281513.5:p.Cys1011=
ENST00000429842.1:c.325C>T
ENST00000441755.5:c.174C>T	ENSP00000396501.1:p.Cys58=
ENST00000442506.5:c.176C>T
NM_015909.3:c.3033C>T	NP_056993.2:p.Cys1011=
NR_052013.2:n.3077C>T
XM_011510357.1:c.2904C>T	XP_011508659.1:p.Cys968=
XM_011510358.1:c.3033C>T	XP_011508660.1:p.Cys1011=
XM_011510359.1:c.2394C>T	XP_011508661.1:p.Cys798=
XM_011510360.1:c.834C>T	XP_011508662.1:p.Cys278=
XM_011510361.1:c.825C>T	XP_011508663.1:p.Cys275=
XM_011510357.2:c.2904C>T	XP_011508659.1:p.Cys968=
XM_011510358.2:c.3033C>T	XP_011508660.1:p.Cys1011=
XM_011510360.2:c.834C>T	XP_011508662.1:p.Cys278=
XM_011510361.2:c.825C>T	XP_011508663.1:p.Cys275=
XM_017004317.1:c.3033C>T	XP_016859806.1:p.Cys1011=
XM_024452961.1:c.2394C>T	XP_024308729.1:p.Cys798=
NM_015909.4:c.3033C>T MANE Select	NP_056993.2:p.Cys1011=
NR_052013.3:n.3063C>T