Canonical Allele Identifier: CA345912288

Gene: NBAS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15167305C>A , CM000664.2:g.15167305C>A	GRCh38
NC_000002.11:g.15307429C>A , CM000664.1:g.15307429C>A	GRCh37
NC_000002.10:g.15224880C>A	NCBI36
NG_032964.1:g.399044G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015909.4:c.6859G>T MANE Select	NP_056993.2:p.Asp2287Tyr
ENST00000281513.10:c.6859G>T MANE Select	ENSP00000281513.5:p.Asp2287Tyr
NM_015909.3:c.6859G>T	NP_056993.2:p.Asp2287Tyr
NR_052013.2:n.6707G>T
NR_052013.3:n.6693G>T
ENST00000281513.9:c.6859G>T	ENSP00000281513.5:p.Asp2287Tyr
ENST00000417461.5:c.939G>T	ENSP00000392421.1:n.939G>T
ENST00000433283.5:c.298G>T	ENSP00000390920.1:p.Asp100Tyr
ENST00000442506.5:c.4002G>T
ENST00000485694.1:n.1410G>T
ENST00000700061.1:c.4845G>T
ENST00000700062.1:c.4853G>T
ENST00000700063.1:c.1370G>T
ENST00000700064.1:c.2864G>T
XM_011510357.1:c.6730G>T	XP_011508659.1:p.Asp2244Tyr
XM_011510357.2:c.6730G>T	XP_011508659.1:p.Asp2244Tyr
XM_011510358.1:c.6730G>T	XP_011508660.1:p.Asp2244Tyr
XM_011510358.2:c.6730G>T	XP_011508660.1:p.Asp2244Tyr
XM_011510359.1:c.6220G>T	XP_011508661.1:p.Asp2074Tyr
XM_011510360.1:c.4660G>T	XP_011508662.1:p.Asp1554Tyr
XM_011510360.2:c.4660G>T	XP_011508662.1:p.Asp1554Tyr
XM_011510361.1:c.4651G>T	XP_011508663.1:p.Asp1551Tyr
XM_011510361.2:c.4651G>T	XP_011508663.1:p.Asp1551Tyr
XM_017004317.1:c.6840+11683G>T	XP_016859806.1:n.6840+11683G>T
XM_024452961.1:c.6220G>T	XP_024308729.1:p.Asp2074Tyr