Canonical Allele Identifier: CA2189593723
Gene: CHRNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78590586T= , CM000677.2:g.78590586T= GRCh38
NC_000015.9:g.78882928T= , CM000677.1:g.78882928T= GRCh37
NC_000015.8:g.76669983T= NCBI36
NG_023328.1:g.30067T=

Transcript Alleles

HGVS Amino-acid change
ENST00000299565.9:c.1195T= MANE Select ENSP00000299565.5:p.Ser399=
ENST00000394802.4:c.522+488T=
ENST00000559554.5:c.458+737T= ENSP00000453519.1:n.458+737T=
ENST00000559576.1:c.145+80T=
NM_000745.3:c.1195T= NP_000736.2:p.Ser399=
NM_001307945.1:c.458+737T= NP_001294874.1:n.458+737T=
XM_005254142.2:c.707+488T= XP_005254199.1:n.707+488T=
NM_001307945.2:c.458+737T= NP_001294874.1:n.458+737T=
NM_000745.4:c.1195T= MANE Select NP_000736.2:p.Ser399=
NM_001395171.1:c.1115+80T= NP_001382100.1:n.1115+80T=
NM_001395172.1:c.591+604T= NP_001382101.1:n.591+604T=
NM_001395173.1:c.713+482T= NP_001382102.1:n.713+482T=
NM_001395174.1:c.707+488T= NP_001382103.1:n.707+488T=
NM_001395175.1:c.455+737T= NP_001382104.1:n.455+737T=