Canonical Allele Identifier: CA7684118
Gene: CHRNA5 HGNC NCBI

Linked Data

dbSNP Id: rs775575449

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78590400A>T , CM000677.2:g.78590400A>T GRCh38
NC_000015.9:g.78882742A>T , CM000677.1:g.78882742A>T GRCh37
NC_000015.8:g.76669797A>T NCBI36
NG_023328.1:g.29881A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.1009A>T MANE Select ENSP00000299565.5:p.Ile337Phe
ENST00000394802.4:c.522+302A>T
ENST00000559554.5:c.458+551A>T ENSP00000453519.1:n.458+551A>T
ENST00000559576.1:c.39A>T
NM_000745.3:c.1009A>T NP_000736.2:p.Ile337Phe
NM_001307945.1:c.458+551A>T NP_001294874.1:n.458+551A>T
XM_005254142.2:c.707+302A>T XP_005254199.1:n.707+302A>T
NM_001307945.2:c.458+551A>T NP_001294874.1:n.458+551A>T
NM_000745.4:c.1009A>T MANE Select NP_000736.2:p.Ile337Phe
NM_001395171.1:c.1009A>T NP_001382100.1:p.Ile337Phe
NM_001395172.1:c.591+418A>T NP_001382101.1:n.591+418A>T
NM_001395173.1:c.713+296A>T NP_001382102.1:n.713+296A>T
NM_001395174.1:c.707+302A>T NP_001382103.1:n.707+302A>T
NM_001395175.1:c.455+551A>T NP_001382104.1:n.455+551A>T