Canonical Allele Identifier: CA345890074

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564542G>A (hg19) ; chr2:g.15424418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424418G>A , CM000664.2:g.15424418G>A	GRCh38
NC_000002.11:g.15564542G>A , CM000664.1:g.15564542G>A	GRCh37
NC_000002.10:g.15481993G>A	NCBI36
NG_032964.1:g.141931C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.571C>T
ENST00000700062.1:c.571C>T
ENST00000700065.1:n.2487C>T
ENST00000700066.1:c.1991C>T	ENSP00000514780.1:p.Ala664Val
ENST00000281513.10:c.2474C>T MANE Select	ENSP00000281513.5:p.Ala825Val
ENST00000281513.9:c.2474C>T	ENSP00000281513.5:p.Ala825Val
NM_015909.3:c.2474C>T	NP_056993.2:p.Ala825Val
NR_052013.2:n.2518C>T
XM_011510357.1:c.2345C>T	XP_011508659.1:p.Ala782Val
XM_011510358.1:c.2474C>T	XP_011508660.1:p.Ala825Val
XM_011510359.1:c.1835C>T	XP_011508661.1:p.Ala612Val
XM_011510360.1:c.275C>T	XP_011508662.1:p.Ala92Val
XM_011510361.1:c.266C>T	XP_011508663.1:p.Ala89Val
XM_011510357.2:c.2345C>T	XP_011508659.1:p.Ala782Val
XM_011510358.2:c.2474C>T	XP_011508660.1:p.Ala825Val
XM_011510360.2:c.275C>T	XP_011508662.1:p.Ala92Val
XM_011510361.2:c.266C>T	XP_011508663.1:p.Ala89Val
XM_017004317.1:c.2474C>T	XP_016859806.1:p.Ala825Val
XM_024452961.1:c.1835C>T	XP_024308729.1:p.Ala612Val
NM_015909.4:c.2474C>T MANE Select	NP_056993.2:p.Ala825Val
NR_052013.3:n.2504C>T