Canonical Allele Identifier: CA393578361
Gene: CHRNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78590509A>G , CM000677.2:g.78590509A>G GRCh38
NC_000015.9:g.78882851A>G , CM000677.1:g.78882851A>G GRCh37
NC_000015.8:g.76669906A>G NCBI36
NG_023328.1:g.29990A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299565.9:c.1118A>G MANE Select ENSP00000299565.5:p.Tyr373Cys
ENST00000394802.4:c.522+411A>G
ENST00000559554.5:c.458+660A>G ENSP00000453519.1:n.458+660A>G
ENST00000559576.1:c.145+3A>G
NM_000745.3:c.1118A>G NP_000736.2:p.Tyr373Cys
NM_001307945.1:c.458+660A>G NP_001294874.1:n.458+660A>G
XM_005254142.2:c.707+411A>G XP_005254199.1:n.707+411A>G
NM_001307945.2:c.458+660A>G NP_001294874.1:n.458+660A>G
NM_000745.4:c.1118A>G MANE Select NP_000736.2:p.Tyr373Cys
NM_001395171.1:c.1115+3A>G NP_001382100.1:n.1115+3A>G
NM_001395172.1:c.591+527A>G NP_001382101.1:n.591+527A>G
NM_001395173.1:c.713+405A>G NP_001382102.1:n.713+405A>G
NM_001395174.1:c.707+411A>G NP_001382103.1:n.707+411A>G
NM_001395175.1:c.455+660A>G NP_001382104.1:n.455+660A>G