Canonical Allele Identifier: CA393577900

Gene: CHRNA5

Linked Data

• MyVariant Identifiers: chr15:g.78882738C>G (hg19) ; chr15:g.78590396C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78590396C>G , CM000677.2:g.78590396C>G	GRCh38
NC_000015.9:g.78882738C>G , CM000677.1:g.78882738C>G	GRCh37
NC_000015.8:g.76669793C>G	NCBI36
NG_023328.1:g.29877C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.1005C>G MANE Select	ENSP00000299565.5:p.Ile335Met
ENST00000394802.4:c.522+298C>G
ENST00000559554.5:c.458+547C>G	ENSP00000453519.1:n.458+547C>G
ENST00000559576.1:c.35C>G
NM_000745.3:c.1005C>G	NP_000736.2:p.Ile335Met
NM_001307945.1:c.458+547C>G	NP_001294874.1:n.458+547C>G
XM_005254142.2:c.707+298C>G	XP_005254199.1:n.707+298C>G
NM_001307945.2:c.458+547C>G	NP_001294874.1:n.458+547C>G
NM_000745.4:c.1005C>G MANE Select	NP_000736.2:p.Ile335Met
NM_001395171.1:c.1005C>G	NP_001382100.1:p.Ile335Met
NM_001395172.1:c.591+414C>G	NP_001382101.1:n.591+414C>G
NM_001395173.1:c.713+292C>G	NP_001382102.1:n.713+292C>G
NM_001395174.1:c.707+298C>G	NP_001382103.1:n.707+298C>G
NM_001395175.1:c.455+547C>G	NP_001382104.1:n.455+547C>G