Canonical Allele Identifier: CA345890059

Gene: NBAS

Linked Data

• dbSNP Id: rs1304906462
• gnomAD v3: 2-15424415-T-C
• gnomAD v4: 2-15424415-T-C
• MyVariant Identifiers: chr2:g.15564539T>C (hg19) ; chr2:g.15424415T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424415T>C , CM000664.2:g.15424415T>C	GRCh38
NC_000002.11:g.15564539T>C , CM000664.1:g.15564539T>C	GRCh37
NC_000002.10:g.15481990T>C	NCBI36
NG_032964.1:g.141934A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.574A>G
ENST00000700062.1:c.574A>G
ENST00000700065.1:n.2490A>G
ENST00000700066.1:c.1994A>G	ENSP00000514780.1:p.Gln665Arg
ENST00000281513.10:c.2477A>G MANE Select	ENSP00000281513.5:p.Gln826Arg
ENST00000281513.9:c.2477A>G	ENSP00000281513.5:p.Gln826Arg
NM_015909.3:c.2477A>G	NP_056993.2:p.Gln826Arg
NR_052013.2:n.2521A>G
XM_011510357.1:c.2348A>G	XP_011508659.1:p.Gln783Arg
XM_011510358.1:c.2477A>G	XP_011508660.1:p.Gln826Arg
XM_011510359.1:c.1838A>G	XP_011508661.1:p.Gln613Arg
XM_011510360.1:c.278A>G	XP_011508662.1:p.Gln93Arg
XM_011510361.1:c.269A>G	XP_011508663.1:p.Gln90Arg
XM_011510357.2:c.2348A>G	XP_011508659.1:p.Gln783Arg
XM_011510358.2:c.2477A>G	XP_011508660.1:p.Gln826Arg
XM_011510360.2:c.278A>G	XP_011508662.1:p.Gln93Arg
XM_011510361.2:c.269A>G	XP_011508663.1:p.Gln90Arg
XM_017004317.1:c.2477A>G	XP_016859806.1:p.Gln826Arg
XM_024452961.1:c.1838A>G	XP_024308729.1:p.Gln613Arg
NM_015909.4:c.2477A>G MANE Select	NP_056993.2:p.Gln826Arg
NR_052013.3:n.2507A>G