Canonical Allele Identifier: CA424868965

Gene: NBAS

Linked Data

• dbSNP Id: rs1163414856
• MyVariant Identifiers: chr2:g.15542377G>A (hg19) ; chr2:g.15402253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402253G>A , CM000664.2:g.15402253G>A	GRCh38
NC_000002.11:g.15542377G>A , CM000664.1:g.15542377G>A	GRCh37
NC_000002.10:g.15459828G>A	NCBI36
NG_032964.1:g.164096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1083C>T
ENST00000700062.1:c.1083C>T
ENST00000700065.1:n.2999C>T
ENST00000281513.10:c.2986C>T MANE Select	ENSP00000281513.5:p.Leu996=
ENST00000281513.9:c.2986C>T	ENSP00000281513.5:p.Leu996=
ENST00000429842.1:c.278C>T
ENST00000441755.5:c.127C>T	ENSP00000396501.1:p.Leu43=
ENST00000442506.5:c.129C>T
NM_015909.3:c.2986C>T	NP_056993.2:p.Leu996=
NR_052013.2:n.3030C>T
XM_011510357.1:c.2857C>T	XP_011508659.1:p.Leu953=
XM_011510358.1:c.2986C>T	XP_011508660.1:p.Leu996=
XM_011510359.1:c.2347C>T	XP_011508661.1:p.Leu783=
XM_011510360.1:c.787C>T	XP_011508662.1:p.Leu263=
XM_011510361.1:c.778C>T	XP_011508663.1:p.Leu260=
XM_011510357.2:c.2857C>T	XP_011508659.1:p.Leu953=
XM_011510358.2:c.2986C>T	XP_011508660.1:p.Leu996=
XM_011510360.2:c.787C>T	XP_011508662.1:p.Leu263=
XM_011510361.2:c.778C>T	XP_011508663.1:p.Leu260=
XM_017004317.1:c.2986C>T	XP_016859806.1:p.Leu996=
XM_024452961.1:c.2347C>T	XP_024308729.1:p.Leu783=
NM_015909.4:c.2986C>T MANE Select	NP_056993.2:p.Leu996=
NR_052013.3:n.3016C>T