Canonical Allele Identifier: CA424870637

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564583A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424459A>C , CM000664.2:g.15424459A>C	GRCh38
NC_000002.11:g.15564583A>C , CM000664.1:g.15564583A>C	GRCh37
NC_000002.10:g.15482034A>C	NCBI36
NG_032964.1:g.141890T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.530T>G
ENST00000700062.1:c.530T>G
ENST00000700065.1:n.2446T>G
ENST00000700066.1:c.1950T>G	ENSP00000514780.1:p.Val650=
ENST00000281513.10:c.2433T>G MANE Select	ENSP00000281513.5:p.Val811=
ENST00000281513.9:c.2433T>G	ENSP00000281513.5:p.Val811=
NM_015909.3:c.2433T>G	NP_056993.2:p.Val811=
NR_052013.2:n.2477T>G
XM_011510357.1:c.2304T>G	XP_011508659.1:p.Val768=
XM_011510358.1:c.2433T>G	XP_011508660.1:p.Val811=
XM_011510359.1:c.1794T>G	XP_011508661.1:p.Val598=
XM_011510360.1:c.234T>G	XP_011508662.1:p.Val78=
XM_011510361.1:c.225T>G	XP_011508663.1:p.Val75=
XM_011510357.2:c.2304T>G	XP_011508659.1:p.Val768=
XM_011510358.2:c.2433T>G	XP_011508660.1:p.Val811=
XM_011510360.2:c.234T>G	XP_011508662.1:p.Val78=
XM_011510361.2:c.225T>G	XP_011508663.1:p.Val75=
XM_017004317.1:c.2433T>G	XP_016859806.1:p.Val811=
XM_024452961.1:c.1794T>G	XP_024308729.1:p.Val598=
NM_015909.4:c.2433T>G MANE Select	NP_056993.2:p.Val811=
NR_052013.3:n.2463T>G