Canonical Allele Identifier: CA345883782
Gene: NBAS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15218794T>A , CM000664.2:g.15218794T>A GRCh38
NC_000002.11:g.15358918T>A , CM000664.1:g.15358918T>A GRCh37
NC_000002.10:g.15276369T>A NCBI36
NG_032964.1:g.347555A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000700061.1:c.4397A>T
ENST00000700062.1:c.4426+13628A>T
ENST00000700063.1:c.922A>T
ENST00000700064.1:c.2267A>T
ENST00000281513.10:c.6411A>T MANE Select ENSP00000281513.5:p.Lys2137Asn
ENST00000281513.9:c.6411A>T ENSP00000281513.5:p.Lys2137Asn
ENST00000417461.5:c.512+13628A>T ENSP00000392421.1:n.512+13628A>T
ENST00000442506.5:c.3554A>T
NM_015909.3:c.6411A>T NP_056993.2:p.Lys2137Asn
NR_052013.2:n.6280+13628A>T
XM_011510357.1:c.6282A>T XP_011508659.1:p.Lys2094Asn
XM_011510358.1:c.6411A>T XP_011508660.1:p.Lys2137Asn
XM_011510359.1:c.5772A>T XP_011508661.1:p.Lys1924Asn
XM_011510360.1:c.4212A>T XP_011508662.1:p.Lys1404Asn
XM_011510361.1:c.4203A>T XP_011508663.1:p.Lys1401Asn
XM_011510357.2:c.6282A>T XP_011508659.1:p.Lys2094Asn
XM_011510358.2:c.6411A>T XP_011508660.1:p.Lys2137Asn
XM_011510360.2:c.4212A>T XP_011508662.1:p.Lys1404Asn
XM_011510361.2:c.4203A>T XP_011508663.1:p.Lys1401Asn
XM_017004317.1:c.6411A>T XP_016859806.1:p.Lys2137Asn
XM_024452961.1:c.5772A>T XP_024308729.1:p.Lys1924Asn
NM_015909.4:c.6411A>T MANE Select NP_056993.2:p.Lys2137Asn
NR_052013.3:n.6266+13628A>T