Canonical Allele Identifier: CA1536348

Gene: NBAS

Linked Data

• dbSNP Id: rs759099309
• ExAC: 2:15564578 G / A
• gnomAD v2: 2-15564578-G-A
• gnomAD v4: 2-15424454-G-A
• MyVariant Identifiers: chr2:g.15564578G>A (hg19) ; chr2:g.15424454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424454G>A , CM000664.2:g.15424454G>A	GRCh38
NC_000002.11:g.15564578G>A , CM000664.1:g.15564578G>A	GRCh37
NC_000002.10:g.15482029G>A	NCBI36
NG_032964.1:g.141895C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.535C>T
ENST00000700062.1:c.535C>T
ENST00000700065.1:n.2451C>T
ENST00000700066.1:c.1955C>T	ENSP00000514780.1:p.Pro652Leu
ENST00000281513.10:c.2438C>T MANE Select	ENSP00000281513.5:p.Pro813Leu
ENST00000281513.9:c.2438C>T	ENSP00000281513.5:p.Pro813Leu
NM_015909.3:c.2438C>T	NP_056993.2:p.Pro813Leu
NR_052013.2:n.2482C>T
XM_011510357.1:c.2309C>T	XP_011508659.1:p.Pro770Leu
XM_011510358.1:c.2438C>T	XP_011508660.1:p.Pro813Leu
XM_011510359.1:c.1799C>T	XP_011508661.1:p.Pro600Leu
XM_011510360.1:c.239C>T	XP_011508662.1:p.Pro80Leu
XM_011510361.1:c.230C>T	XP_011508663.1:p.Pro77Leu
XM_011510357.2:c.2309C>T	XP_011508659.1:p.Pro770Leu
XM_011510358.2:c.2438C>T	XP_011508660.1:p.Pro813Leu
XM_011510360.2:c.239C>T	XP_011508662.1:p.Pro80Leu
XM_011510361.2:c.230C>T	XP_011508663.1:p.Pro77Leu
XM_017004317.1:c.2438C>T	XP_016859806.1:p.Pro813Leu
XM_024452961.1:c.1799C>T	XP_024308729.1:p.Pro600Leu
NM_015909.4:c.2438C>T MANE Select	NP_056993.2:p.Pro813Leu
NR_052013.3:n.2468C>T