LDH info

Canonical Allele Identifier: CA127232
Gene: CHRNA5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17497
dbSNP Id: rs16969968

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78590583G>A , CM000677.2:g.78590583G>A GRCh38
NC_000015.9:g.78882925G>A , CM000677.1:g.78882925G>A GRCh37
NC_000015.8:g.76669980G>A NCBI36
NG_023328.1:g.30064G>A

Transcript Alleles

HGVS Amino-acid change
NM_000745.3:c.1192G>A VV NP_000736.2:p.Asp398Asn
NM_001307945.1:c.458+734G>A VV NP_001294874.1:p.=
XM_005254142.2:c.707+485G>A XP_005254199.1:p.=
NM_001307945.2:c.458+734G>A VV NP_001294874.1:p.=
ENST00000299565.9:c.1192G>A ENSP00000299565.5:p.Asp398Asn
ENST00000394802.4:n.522+485G>A
ENST00000559554.5:c.458+734G>A ENSP00000453519.1:p.=
ENST00000559576.1:n.145+77G>A