LDH info

Canonical Allele Identifier: CA127234
Gene: CHRNA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17503
dbSNP Id: rs1051730

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601997G>A , CM000677.2:g.78601997G>A GRCh38
NC_000015.9:g.78894339G>A , CM000677.1:g.78894339G>A GRCh37
NC_000015.8:g.76681394G>A NCBI36
NG_016143.1:g.24299C>T

Transcript Alleles

HGVS Amino-acid change
NM_000743.4:c.645C>T VV NP_000734.2:p.Tyr215=
NM_001166694.1:c.645C>T VV NP_001160166.1:p.Tyr215=
NR_046313.1:n.1146C>T
XM_006720382.1:c.444C>T XP_006720445.1:p.Tyr148=
XM_011521173.1:c.564C>T XP_011519475.1:p.Tyr188=
XM_006720382.3:c.444C>T XP_006720445.1:p.Tyr148=
NM_000743.5:c.645C>T VV MANE Preferred NP_000734.2:p.Tyr215=
NM_001166694.2:c.645C>T VV NP_001160166.1:p.Tyr215=
NR_046313.2:n.847C>T
ENST00000326828.5:c.645C>T ENSP00000315602.5:p.Tyr215=
ENST00000348639.7:c.645C>T ENSP00000267951.4:p.Tyr215=
ENST00000558903.1:n.352C>T
ENST00000559658.5:c.645C>T ENSP00000452896.1:p.Tyr215=