Canonical Allele Identifier: CA2490796197

Gene: NBAS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218829G= , CM000664.2:g.15218829G=	GRCh38
NC_000002.11:g.15358953G= , CM000664.1:g.15358953G=	GRCh37
NC_000002.10:g.15276404G=	NCBI36
NG_032964.1:g.347520C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4362C=
ENST00000700062.1:c.4426+13593C=
ENST00000700063.1:c.887C=
ENST00000700064.1:c.2232C=
ENST00000281513.10:c.6376C= MANE Select	ENSP00000281513.5:p.Leu2126=
ENST00000281513.9:c.6376C=	ENSP00000281513.5:p.Leu2126=
ENST00000417461.5:c.512+13593C=	ENSP00000392421.1:n.512+13593C=
ENST00000442506.5:c.3519C=
NM_015909.3:c.6376C=	NP_056993.2:p.Leu2126=
NR_052013.2:n.6280+13593C=
XM_011510357.1:c.6247C=	XP_011508659.1:p.Leu2083=
XM_011510358.1:c.6376C=	XP_011508660.1:p.Leu2126=
XM_011510359.1:c.5737C=	XP_011508661.1:p.Leu1913=
XM_011510360.1:c.4177C=	XP_011508662.1:p.Leu1393=
XM_011510361.1:c.4168C=	XP_011508663.1:p.Leu1390=
XM_011510357.2:c.6247C=	XP_011508659.1:p.Leu2083=
XM_011510358.2:c.6376C=	XP_011508660.1:p.Leu2126=
XM_011510360.2:c.4177C=	XP_011508662.1:p.Leu1393=
XM_011510361.2:c.4168C=	XP_011508663.1:p.Leu1390=
XM_017004317.1:c.6376C=	XP_016859806.1:p.Leu2126=
XM_024452961.1:c.5737C=	XP_024308729.1:p.Leu1913=
NM_015909.4:c.6376C= MANE Select	NP_056993.2:p.Leu2126=
NR_052013.3:n.6266+13593C=