Canonical Allele Identifier: CA345890153

Gene: NBAS

Linked Data

• dbSNP Id: rs1677365521
• gnomAD v4: 2-15424433-T-C
• MyVariant Identifiers: chr2:g.15564557T>C (hg19) ; chr2:g.15424433T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424433T>C , CM000664.2:g.15424433T>C	GRCh38
NC_000002.11:g.15564557T>C , CM000664.1:g.15564557T>C	GRCh37
NC_000002.10:g.15482008T>C	NCBI36
NG_032964.1:g.141916A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.556A>G
ENST00000700062.1:c.556A>G
ENST00000700065.1:n.2472A>G
ENST00000700066.1:c.1976A>G	ENSP00000514780.1:p.Glu659Gly
ENST00000281513.10:c.2459A>G MANE Select	ENSP00000281513.5:p.Glu820Gly
ENST00000281513.9:c.2459A>G	ENSP00000281513.5:p.Glu820Gly
NM_015909.3:c.2459A>G	NP_056993.2:p.Glu820Gly
NR_052013.2:n.2503A>G
XM_011510357.1:c.2330A>G	XP_011508659.1:p.Glu777Gly
XM_011510358.1:c.2459A>G	XP_011508660.1:p.Glu820Gly
XM_011510359.1:c.1820A>G	XP_011508661.1:p.Glu607Gly
XM_011510360.1:c.260A>G	XP_011508662.1:p.Glu87Gly
XM_011510361.1:c.251A>G	XP_011508663.1:p.Glu84Gly
XM_011510357.2:c.2330A>G	XP_011508659.1:p.Glu777Gly
XM_011510358.2:c.2459A>G	XP_011508660.1:p.Glu820Gly
XM_011510360.2:c.260A>G	XP_011508662.1:p.Glu87Gly
XM_011510361.2:c.251A>G	XP_011508663.1:p.Glu84Gly
XM_017004317.1:c.2459A>G	XP_016859806.1:p.Glu820Gly
XM_024452961.1:c.1820A>G	XP_024308729.1:p.Glu607Gly
NM_015909.4:c.2459A>G MANE Select	NP_056993.2:p.Glu820Gly
NR_052013.3:n.2489A>G