Canonical Allele Identifier: CA345889986

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564529T>A (hg19) ; chr2:g.15424405T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424405T>A , CM000664.2:g.15424405T>A	GRCh38
NC_000002.11:g.15564529T>A , CM000664.1:g.15564529T>A	GRCh37
NC_000002.10:g.15481980T>A	NCBI36
NG_032964.1:g.141944A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.584A>T
ENST00000700062.1:c.584A>T
ENST00000700065.1:n.2500A>T
ENST00000700066.1:c.2004A>T	ENSP00000514780.1:p.Leu668Phe
ENST00000281513.10:c.2487A>T MANE Select	ENSP00000281513.5:p.Leu829Phe
ENST00000281513.9:c.2487A>T	ENSP00000281513.5:p.Leu829Phe
NM_015909.3:c.2487A>T	NP_056993.2:p.Leu829Phe
NR_052013.2:n.2531A>T
XM_011510357.1:c.2358A>T	XP_011508659.1:p.Leu786Phe
XM_011510358.1:c.2487A>T	XP_011508660.1:p.Leu829Phe
XM_011510359.1:c.1848A>T	XP_011508661.1:p.Leu616Phe
XM_011510360.1:c.288A>T	XP_011508662.1:p.Leu96Phe
XM_011510361.1:c.279A>T	XP_011508663.1:p.Leu93Phe
XM_011510357.2:c.2358A>T	XP_011508659.1:p.Leu786Phe
XM_011510358.2:c.2487A>T	XP_011508660.1:p.Leu829Phe
XM_011510360.2:c.288A>T	XP_011508662.1:p.Leu96Phe
XM_011510361.2:c.279A>T	XP_011508663.1:p.Leu93Phe
XM_017004317.1:c.2487A>T	XP_016859806.1:p.Leu829Phe
XM_024452961.1:c.1848A>T	XP_024308729.1:p.Leu616Phe
NM_015909.4:c.2487A>T MANE Select	NP_056993.2:p.Leu829Phe
NR_052013.3:n.2517A>T