Canonical Allele Identifier: CA424868941

Gene: NBAS

Linked Data

• dbSNP Id: rs1676189365
• gnomAD v3: 2-15402209-A-G
• gnomAD v4: 2-15402209-A-G
• MyVariant Identifiers: chr2:g.15542333A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402209A>G , CM000664.2:g.15402209A>G	GRCh38
NC_000002.11:g.15542333A>G , CM000664.1:g.15542333A>G	GRCh37
NC_000002.10:g.15459784A>G	NCBI36
NG_032964.1:g.164140T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1127T>C
ENST00000700062.1:c.1127T>C
ENST00000700065.1:n.3043T>C
ENST00000281513.10:c.3030T>C MANE Select	ENSP00000281513.5:p.Leu1010=
ENST00000281513.9:c.3030T>C	ENSP00000281513.5:p.Leu1010=
ENST00000429842.1:c.322T>C
ENST00000441755.5:c.171T>C	ENSP00000396501.1:p.Leu57=
ENST00000442506.5:c.173T>C
NM_015909.3:c.3030T>C	NP_056993.2:p.Leu1010=
NR_052013.2:n.3074T>C
XM_011510357.1:c.2901T>C	XP_011508659.1:p.Leu967=
XM_011510358.1:c.3030T>C	XP_011508660.1:p.Leu1010=
XM_011510359.1:c.2391T>C	XP_011508661.1:p.Leu797=
XM_011510360.1:c.831T>C	XP_011508662.1:p.Leu277=
XM_011510361.1:c.822T>C	XP_011508663.1:p.Leu274=
XM_011510357.2:c.2901T>C	XP_011508659.1:p.Leu967=
XM_011510358.2:c.3030T>C	XP_011508660.1:p.Leu1010=
XM_011510360.2:c.831T>C	XP_011508662.1:p.Leu277=
XM_011510361.2:c.822T>C	XP_011508663.1:p.Leu274=
XM_017004317.1:c.3030T>C	XP_016859806.1:p.Leu1010=
XM_024452961.1:c.2391T>C	XP_024308729.1:p.Leu797=
NM_015909.4:c.3030T>C MANE Select	NP_056993.2:p.Leu1010=
NR_052013.3:n.3060T>C