Canonical Allele Identifier: CA345890042

Gene: NBAS

Linked Data

• gnomAD v4: 2-15424410-C-T
• MyVariant Identifiers: chr2:g.15564534C>T (hg19) ; chr2:g.15424410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424410C>T , CM000664.2:g.15424410C>T	GRCh38
NC_000002.11:g.15564534C>T , CM000664.1:g.15564534C>T	GRCh37
NC_000002.10:g.15481985C>T	NCBI36
NG_032964.1:g.141939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.579G>A
ENST00000700062.1:c.579G>A
ENST00000700065.1:n.2495G>A
ENST00000700066.1:c.1999G>A	ENSP00000514780.1:p.Glu667Lys
ENST00000281513.10:c.2482G>A MANE Select	ENSP00000281513.5:p.Glu828Lys
ENST00000281513.9:c.2482G>A	ENSP00000281513.5:p.Glu828Lys
NM_015909.3:c.2482G>A	NP_056993.2:p.Glu828Lys
NR_052013.2:n.2526G>A
XM_011510357.1:c.2353G>A	XP_011508659.1:p.Glu785Lys
XM_011510358.1:c.2482G>A	XP_011508660.1:p.Glu828Lys
XM_011510359.1:c.1843G>A	XP_011508661.1:p.Glu615Lys
XM_011510360.1:c.283G>A	XP_011508662.1:p.Glu95Lys
XM_011510361.1:c.274G>A	XP_011508663.1:p.Glu92Lys
XM_011510357.2:c.2353G>A	XP_011508659.1:p.Glu785Lys
XM_011510358.2:c.2482G>A	XP_011508660.1:p.Glu828Lys
XM_011510360.2:c.283G>A	XP_011508662.1:p.Glu95Lys
XM_011510361.2:c.274G>A	XP_011508663.1:p.Glu92Lys
XM_017004317.1:c.2482G>A	XP_016859806.1:p.Glu828Lys
XM_024452961.1:c.1843G>A	XP_024308729.1:p.Glu615Lys
NM_015909.4:c.2482G>A MANE Select	NP_056993.2:p.Glu828Lys
NR_052013.3:n.2512G>A