Canonical Allele Identifier: CA393577875
Gene: CHRNA5 HGNC NCBI

Linked Data

dbSNP Id: rs146801604

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78590390C>A , CM000677.2:g.78590390C>A GRCh38
NC_000015.9:g.78882732C>A , CM000677.1:g.78882732C>A GRCh37
NC_000015.8:g.76669787C>A NCBI36
NG_023328.1:g.29871C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.999C>A MANE Select ENSP00000299565.5:p.Phe333Leu
ENST00000394802.4:c.522+292C>A
ENST00000559554.5:c.458+541C>A ENSP00000453519.1:n.458+541C>A
ENST00000559576.1:c.29C>A
NM_000745.3:c.999C>A NP_000736.2:p.Phe333Leu
NM_001307945.1:c.458+541C>A NP_001294874.1:n.458+541C>A
XM_005254142.2:c.707+292C>A XP_005254199.1:n.707+292C>A
NM_001307945.2:c.458+541C>A NP_001294874.1:n.458+541C>A
NM_000745.4:c.999C>A MANE Select NP_000736.2:p.Phe333Leu
NM_001395171.1:c.999C>A NP_001382100.1:p.Phe333Leu
NM_001395172.1:c.591+408C>A NP_001382101.1:n.591+408C>A
NM_001395173.1:c.713+286C>A NP_001382102.1:n.713+286C>A
NM_001395174.1:c.707+292C>A NP_001382103.1:n.707+292C>A
NM_001395175.1:c.455+541C>A NP_001382104.1:n.455+541C>A