Canonical Allele Identifier: CA273896078

Gene: CHRNA5

Linked Data

• dbSNP Id: rs768325287
• gnomAD v4: 15-78590586-T-G
• MyVariant Identifiers: chr15:g.78882928T>G (hg19) ; chr15:g.78590586T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000299565.9:c.1195T>G MANE Select	ENSP00000299565.5:p.Ser399Ala
ENST00000394802.4:c.522+488T>G
ENST00000559554.5:c.458+737T>G	ENSP00000453519.1:n.458+737T>G
ENST00000559576.1:c.145+80T>G
NM_000745.3:c.1195T>G	NP_000736.2:p.Ser399Ala
NM_001307945.1:c.458+737T>G	NP_001294874.1:n.458+737T>G
XM_005254142.2:c.707+488T>G	XP_005254199.1:n.707+488T>G
NM_001307945.2:c.458+737T>G	NP_001294874.1:n.458+737T>G
NM_000745.4:c.1195T>G MANE Select	NP_000736.2:p.Ser399Ala
NM_001395171.1:c.1115+80T>G	NP_001382100.1:n.1115+80T>G
NM_001395172.1:c.591+604T>G	NP_001382101.1:n.591+604T>G
NM_001395173.1:c.713+482T>G	NP_001382102.1:n.713+482T>G
NM_001395174.1:c.707+488T>G	NP_001382103.1:n.707+488T>G
NM_001395175.1:c.455+737T>G	NP_001382104.1:n.455+737T>G