Canonical Allele Identifier: CA393578460

Gene: CHRNA5

Linked Data

• MyVariant Identifiers: chr15:g.78882874G>T (hg19) ; chr15:g.78590532G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78590532G>T , CM000677.2:g.78590532G>T	GRCh38
NC_000015.9:g.78882874G>T , CM000677.1:g.78882874G>T	GRCh37
NC_000015.8:g.76669929G>T	NCBI36
NG_023328.1:g.30013G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.1141G>T MANE Select	ENSP00000299565.5:p.Glu381Ter
ENST00000394802.4:c.522+434G>T
ENST00000559554.5:c.458+683G>T	ENSP00000453519.1:n.458+683G>T
ENST00000559576.1:c.145+26G>T
NM_000745.3:c.1141G>T	NP_000736.2:p.Glu381Ter
NM_001307945.1:c.458+683G>T	NP_001294874.1:n.458+683G>T
XM_005254142.2:c.707+434G>T	XP_005254199.1:n.707+434G>T
NM_001307945.2:c.458+683G>T	NP_001294874.1:n.458+683G>T
NM_000745.4:c.1141G>T MANE Select	NP_000736.2:p.Glu381Ter
NM_001395171.1:c.1115+26G>T	NP_001382100.1:n.1115+26G>T
NM_001395172.1:c.591+550G>T	NP_001382101.1:n.591+550G>T
NM_001395173.1:c.713+428G>T	NP_001382102.1:n.713+428G>T
NM_001395174.1:c.707+434G>T	NP_001382103.1:n.707+434G>T
NM_001395175.1:c.455+683G>T	NP_001382104.1:n.455+683G>T