Canonical Allele Identifier: CA2189593478
Gene: CHRNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78590406C= , CM000677.2:g.78590406C= GRCh38
NC_000015.9:g.78882748C= , CM000677.1:g.78882748C= GRCh37
NC_000015.8:g.76669803C= NCBI36
NG_023328.1:g.29887C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.1015C= MANE Select ENSP00000299565.5:p.His339=
ENST00000394802.4:c.522+308C=
ENST00000559554.5:c.458+557C= ENSP00000453519.1:n.458+557C=
ENST00000559576.1:c.45C=
NM_000745.3:c.1015C= NP_000736.2:p.His339=
NM_001307945.1:c.458+557C= NP_001294874.1:n.458+557C=
XM_005254142.2:c.707+308C= XP_005254199.1:n.707+308C=
NM_001307945.2:c.458+557C= NP_001294874.1:n.458+557C=
NM_000745.4:c.1015C= MANE Select NP_000736.2:p.His339=
NM_001395171.1:c.1015C= NP_001382100.1:p.His339=
NM_001395172.1:c.591+424C= NP_001382101.1:n.591+424C=
NM_001395173.1:c.713+302C= NP_001382102.1:n.713+302C=
NM_001395174.1:c.707+308C= NP_001382103.1:n.707+308C=
NM_001395175.1:c.455+557C= NP_001382104.1:n.455+557C=