Canonical Allele Identifier: CA345890147

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564556T>A (hg19) ; chr2:g.15424432T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424432T>A , CM000664.2:g.15424432T>A	GRCh38
NC_000002.11:g.15564556T>A , CM000664.1:g.15564556T>A	GRCh37
NC_000002.10:g.15482007T>A	NCBI36
NG_032964.1:g.141917A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.557A>T
ENST00000700062.1:c.557A>T
ENST00000700065.1:n.2473A>T
ENST00000700066.1:c.1977A>T	ENSP00000514780.1:p.Glu659Asp
ENST00000281513.10:c.2460A>T MANE Select	ENSP00000281513.5:p.Glu820Asp
ENST00000281513.9:c.2460A>T	ENSP00000281513.5:p.Glu820Asp
NM_015909.3:c.2460A>T	NP_056993.2:p.Glu820Asp
NR_052013.2:n.2504A>T
XM_011510357.1:c.2331A>T	XP_011508659.1:p.Glu777Asp
XM_011510358.1:c.2460A>T	XP_011508660.1:p.Glu820Asp
XM_011510359.1:c.1821A>T	XP_011508661.1:p.Glu607Asp
XM_011510360.1:c.261A>T	XP_011508662.1:p.Glu87Asp
XM_011510361.1:c.252A>T	XP_011508663.1:p.Glu84Asp
XM_011510357.2:c.2331A>T	XP_011508659.1:p.Glu777Asp
XM_011510358.2:c.2460A>T	XP_011508660.1:p.Glu820Asp
XM_011510360.2:c.261A>T	XP_011508662.1:p.Glu87Asp
XM_011510361.2:c.252A>T	XP_011508663.1:p.Glu84Asp
XM_017004317.1:c.2460A>T	XP_016859806.1:p.Glu820Asp
XM_024452961.1:c.1821A>T	XP_024308729.1:p.Glu607Asp
NM_015909.4:c.2460A>T MANE Select	NP_056993.2:p.Glu820Asp
NR_052013.3:n.2490A>T