Canonical Allele Identifier: CA1536186

Gene: NBAS

Linked Data

• dbSNP Id: rs774856811
• ExAC: 2:15542315 T / C
• gnomAD v2: 2-15542315-T-C
• MyVariant Identifiers: chr2:g.15542315T>C (hg19) ; chr2:g.15402191T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402191T>C , CM000664.2:g.15402191T>C	GRCh38
NC_000002.11:g.15542315T>C , CM000664.1:g.15542315T>C	GRCh37
NC_000002.10:g.15459766T>C	NCBI36
NG_032964.1:g.164158A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1145A>G
ENST00000700062.1:c.1145A>G
ENST00000700065.1:n.3061A>G
ENST00000281513.10:c.3048A>G MANE Select	ENSP00000281513.5:p.Glu1016=
ENST00000281513.9:c.3048A>G	ENSP00000281513.5:p.Glu1016=
ENST00000429842.1:c.340A>G
ENST00000441755.5:c.189A>G	ENSP00000396501.1:p.Glu63=
ENST00000442506.5:c.191A>G
NM_015909.3:c.3048A>G	NP_056993.2:p.Glu1016=
NR_052013.2:n.3092A>G
XM_011510357.1:c.2919A>G	XP_011508659.1:p.Glu973=
XM_011510358.1:c.3048A>G	XP_011508660.1:p.Glu1016=
XM_011510359.1:c.2409A>G	XP_011508661.1:p.Glu803=
XM_011510360.1:c.849A>G	XP_011508662.1:p.Glu283=
XM_011510361.1:c.840A>G	XP_011508663.1:p.Glu280=
XM_011510357.2:c.2919A>G	XP_011508659.1:p.Glu973=
XM_011510358.2:c.3048A>G	XP_011508660.1:p.Glu1016=
XM_011510360.2:c.849A>G	XP_011508662.1:p.Glu283=
XM_011510361.2:c.840A>G	XP_011508663.1:p.Glu280=
XM_017004317.1:c.3048A>G	XP_016859806.1:p.Glu1016=
XM_024452961.1:c.2409A>G	XP_024308729.1:p.Glu803=
NM_015909.4:c.3048A>G MANE Select	NP_056993.2:p.Glu1016=
NR_052013.3:n.3078A>G