Canonical Allele Identifier: CA491972544
Gene: CHRNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.78882744T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78590402T>A , CM000677.2:g.78590402T>A GRCh38
NC_000015.9:g.78882744T>A , CM000677.1:g.78882744T>A GRCh37
NC_000015.8:g.76669799T>A NCBI36
NG_023328.1:g.29883T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.1011T>A MANE Select ENSP00000299565.5:p.Ile337=
ENST00000394802.4:c.522+304T>A
ENST00000559554.5:c.458+553T>A ENSP00000453519.1:n.458+553T>A
ENST00000559576.1:c.41T>A
NM_000745.3:c.1011T>A NP_000736.2:p.Ile337=
NM_001307945.1:c.458+553T>A NP_001294874.1:n.458+553T>A
XM_005254142.2:c.707+304T>A XP_005254199.1:n.707+304T>A
NM_001307945.2:c.458+553T>A NP_001294874.1:n.458+553T>A
NM_000745.4:c.1011T>A MANE Select NP_000736.2:p.Ile337=
NM_001395171.1:c.1011T>A NP_001382100.1:p.Ile337=
NM_001395172.1:c.591+420T>A NP_001382101.1:n.591+420T>A
NM_001395173.1:c.713+298T>A NP_001382102.1:n.713+298T>A
NM_001395174.1:c.707+304T>A NP_001382103.1:n.707+304T>A
NM_001395175.1:c.455+553T>A NP_001382104.1:n.455+553T>A