LDH info

Canonical Allele Identifier: CA10104650
Gene: COMT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 828956
ClinVar RCV Id: RCV001028870
dbSNP Id: rs769224

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19964281G>A , CM000684.2:g.19964281G>A GRCh38
NC_000022.10:g.19951804G>A , CM000684.1:g.19951804G>A GRCh37
NC_000022.9:g.18331804G>A NCBI36
NG_011526.1:g.27542G>A

Transcript Alleles

HGVS Amino-acid change
NM_000754.3:c.597G>A VV NP_000745.1:p.Pro199=
NM_001135161.1:c.597G>A VV NP_001128633.1:p.Pro199=
NM_001135162.1:c.597G>A VV NP_001128634.1:p.Pro199=
NM_007310.2:c.447G>A VV NP_009294.1:p.Pro149=
XM_011529885.1:c.711G>A XP_011528187.1:p.Pro237=
XM_011529886.1:c.711G>A XP_011528188.1:p.Pro237=
XM_011529887.1:c.597G>A XP_011528189.1:p.Pro199=
XM_011529888.1:c.597G>A XP_011528190.1:p.Pro199=
XM_011529889.1:c.597G>A XP_011528191.1:p.Pro199=
XM_011529890.1:c.597G>A XP_011528192.1:p.Pro199=
XM_011529891.1:c.597G>A XP_011528193.1:p.Pro199=
NM_001362828.1:c.597G>A VV NP_001349757.1:p.Pro199=
XM_011529886.2:c.1008G>A XP_011528188.2:p.Pro336=
XM_017028595.1:c.597G>A XP_016884084.1:p.Pro199=
NM_000754.4:c.597G>A VV MANE Preferred NP_000745.1:p.Pro199=
NM_001135161.2:c.597G>A VV NP_001128633.1:p.Pro199=
NM_001135162.2:c.597G>A VV NP_001128634.1:p.Pro199=
NM_001362828.2:c.597G>A VV NP_001349757.1:p.Pro199=
NM_007310.3:c.447G>A VV NP_009294.1:p.Pro149=
ENST00000207636.9:c.*55G>A ENSP00000207636.5:p.=
ENST00000361682.10:c.597G>A ENSP00000354511.6:p.Pro199=
ENST00000403184.5:c.597G>A ENSP00000383966.1:p.Pro199=
ENST00000403710.5:c.597G>A ENSP00000385917.1:p.Pro199=
ENST00000406520.7:c.597G>A ENSP00000385150.3:p.Pro199=
ENST00000407537.5:c.597G>A ENSP00000384654.2:p.Pro199=
ENST00000412786.5:c.597G>A ENSP00000403958.1:p.Pro199=
ENST00000428707.1:n.175G>A
ENST00000449653.5:c.447G>A ENSP00000416778.1:p.Pro149=
ENST00000493893.1:n.335G>A