Canonical Allele Identifier: CA345881959

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542332A>C (hg19) ; chr2:g.15402208A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402208A>C , CM000664.2:g.15402208A>C	GRCh38
NC_000002.11:g.15542332A>C , CM000664.1:g.15542332A>C	GRCh37
NC_000002.10:g.15459783A>C	NCBI36
NG_032964.1:g.164141T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1128T>G
ENST00000700062.1:c.1128T>G
ENST00000700065.1:n.3044T>G
ENST00000281513.10:c.3031T>G MANE Select	ENSP00000281513.5:p.Cys1011Gly
ENST00000281513.9:c.3031T>G	ENSP00000281513.5:p.Cys1011Gly
ENST00000429842.1:c.323T>G
ENST00000441755.5:c.172T>G	ENSP00000396501.1:p.Cys58Gly
ENST00000442506.5:c.174T>G
NM_015909.3:c.3031T>G	NP_056993.2:p.Cys1011Gly
NR_052013.2:n.3075T>G
XM_011510357.1:c.2902T>G	XP_011508659.1:p.Cys968Gly
XM_011510358.1:c.3031T>G	XP_011508660.1:p.Cys1011Gly
XM_011510359.1:c.2392T>G	XP_011508661.1:p.Cys798Gly
XM_011510360.1:c.832T>G	XP_011508662.1:p.Cys278Gly
XM_011510361.1:c.823T>G	XP_011508663.1:p.Cys275Gly
XM_011510357.2:c.2902T>G	XP_011508659.1:p.Cys968Gly
XM_011510358.2:c.3031T>G	XP_011508660.1:p.Cys1011Gly
XM_011510360.2:c.832T>G	XP_011508662.1:p.Cys278Gly
XM_011510361.2:c.823T>G	XP_011508663.1:p.Cys275Gly
XM_017004317.1:c.3031T>G	XP_016859806.1:p.Cys1011Gly
XM_024452961.1:c.2392T>G	XP_024308729.1:p.Cys798Gly
NM_015909.4:c.3031T>G MANE Select	NP_056993.2:p.Cys1011Gly
NR_052013.3:n.3061T>G