Canonical Allele Identifier: CA345885596

Gene: NBAS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15415601A>C , CM000664.2:g.15415601A>C	GRCh38
NC_000002.11:g.15555725A>C , CM000664.1:g.15555725A>C	GRCh37
NC_000002.10:g.15473176A>C	NCBI36
NG_032964.1:g.150748T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015909.4:c.2882T>G MANE Select	NP_056993.2:p.Leu961Ter
ENST00000281513.10:c.2882T>G MANE Select	ENSP00000281513.5:p.Leu961Ter
NM_015909.3:c.2882T>G	NP_056993.2:p.Leu961Ter
NR_052013.2:n.2926T>G
NR_052013.3:n.2912T>G
ENST00000281513.9:c.2882T>G	ENSP00000281513.5:p.Leu961Ter
ENST00000429842.1:c.174T>G
ENST00000441755.5:c.78+8714T>G	ENSP00000396501.1:n.78+8714T>G
ENST00000442506.5:c.80+8714T>G
ENST00000700061.1:c.979T>G
ENST00000700062.1:c.979T>G
ENST00000700065.1:n.2895T>G
XM_011510357.1:c.2753T>G	XP_011508659.1:p.Leu918Ter
XM_011510357.2:c.2753T>G	XP_011508659.1:p.Leu918Ter
XM_011510358.1:c.2882T>G	XP_011508660.1:p.Leu961Ter
XM_011510358.2:c.2882T>G	XP_011508660.1:p.Leu961Ter
XM_011510359.1:c.2243T>G	XP_011508661.1:p.Leu748Ter
XM_011510360.1:c.683T>G	XP_011508662.1:p.Leu228Ter
XM_011510360.2:c.683T>G	XP_011508662.1:p.Leu228Ter
XM_011510361.1:c.674T>G	XP_011508663.1:p.Leu225Ter
XM_011510361.2:c.674T>G	XP_011508663.1:p.Leu225Ter
XM_017004317.1:c.2882T>G	XP_016859806.1:p.Leu961Ter
XM_024452961.1:c.2243T>G	XP_024308729.1:p.Leu748Ter