LDH info

Canonical Allele Identifier: CA10104478
Gene: COMT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 256785
ClinVar RCV Id: RCV000249561
dbSNP Id: rs4633

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19962712C>T , CM000684.2:g.19962712C>T GRCh38
NC_000022.10:g.19950235C>T , CM000684.1:g.19950235C>T GRCh37
NC_000022.9:g.18330235C>T NCBI36
NG_011526.1:g.25973C>T

Transcript Alleles

HGVS Amino-acid change
NM_000754.3:c.186C>T VV NP_000745.1:p.His62=
NM_001135161.1:c.186C>T VV NP_001128633.1:p.His62=
NM_001135162.1:c.186C>T VV NP_001128634.1:p.His62=
NM_007310.2:c.36C>T VV NP_009294.1:p.His12=
XM_011529885.1:c.300C>T XP_011528187.1:p.His100=
XM_011529886.1:c.300C>T XP_011528188.1:p.His100=
XM_011529887.1:c.186C>T XP_011528189.1:p.His62=
XM_011529888.1:c.186C>T XP_011528190.1:p.His62=
XM_011529889.1:c.186C>T XP_011528191.1:p.His62=
XM_011529890.1:c.186C>T XP_011528192.1:p.His62=
XM_011529891.1:c.186C>T XP_011528193.1:p.His62=
NM_001362828.1:c.186C>T VV NP_001349757.1:p.His62=
XM_011529886.2:c.597C>T XP_011528188.2:p.His199=
XM_017028595.1:c.186C>T XP_016884084.1:p.His62=
NM_000754.4:c.186C>T VV NP_000745.1:p.His62=
NM_001135161.2:c.186C>T VV NP_001128633.1:p.His62=
NM_001135162.2:c.186C>T VV NP_001128634.1:p.His62=
NM_001362828.2:c.186C>T VV NP_001349757.1:p.His62=
NM_007310.3:c.36C>T VV NP_009294.1:p.His12=
ENST00000207636.9:c.186C>T ENSP00000207636.5:p.His62=
ENST00000361682.10:c.186C>T ENSP00000354511.6:p.His62=
ENST00000403184.5:c.186C>T ENSP00000383966.1:p.His62=
ENST00000403710.5:c.186C>T ENSP00000385917.1:p.His62=
ENST00000406520.7:c.186C>T ENSP00000385150.3:p.His62=
ENST00000407537.5:c.186C>T ENSP00000384654.2:p.His62=
ENST00000412786.5:c.186C>T ENSP00000403958.1:p.His62=
ENST00000449653.5:c.36C>T ENSP00000416778.1:p.His12=
ENST00000467943.5:n.382C>T