LDH info

Canonical Allele Identifier: CA10104576
Gene: COMT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 790230
ClinVar RCV Id: RCV000972988
dbSNP Id: rs8192488

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19963714C>T , CM000684.2:g.19963714C>T GRCh38
NC_000022.10:g.19951237C>T , CM000684.1:g.19951237C>T GRCh37
NC_000022.9:g.18331237C>T NCBI36
NG_011526.1:g.26975C>T

Transcript Alleles

HGVS Amino-acid change
NM_000754.3:c.438C>T VV NP_000745.1:p.Ala146=
NM_001135161.1:c.438C>T VV NP_001128633.1:p.Ala146=
NM_001135162.1:c.438C>T VV NP_001128634.1:p.Ala146=
NM_007310.2:c.288C>T VV NP_009294.1:p.Ala96=
XM_011529885.1:c.552C>T XP_011528187.1:p.Ala184=
XM_011529886.1:c.552C>T XP_011528188.1:p.Ala184=
XM_011529887.1:c.438C>T XP_011528189.1:p.Ala146=
XM_011529888.1:c.438C>T XP_011528190.1:p.Ala146=
XM_011529889.1:c.438C>T XP_011528191.1:p.Ala146=
XM_011529890.1:c.438C>T XP_011528192.1:p.Ala146=
XM_011529891.1:c.438C>T XP_011528193.1:p.Ala146=
NM_001362828.1:c.438C>T VV NP_001349757.1:p.Ala146=
XM_011529886.2:c.849C>T XP_011528188.2:p.Ala283=
XM_017028595.1:c.438C>T XP_016884084.1:p.Ala146=
NM_000754.4:c.438C>T VV NP_000745.1:p.Ala146=
NM_001135161.2:c.438C>T VV NP_001128633.1:p.Ala146=
NM_001135162.2:c.438C>T VV NP_001128634.1:p.Ala146=
NM_001362828.2:c.438C>T VV NP_001349757.1:p.Ala146=
NM_007310.3:c.288C>T VV NP_009294.1:p.Ala96=
ENST00000207636.9:c.438C>T ENSP00000207636.5:p.Ala146=
ENST00000361682.10:c.438C>T ENSP00000354511.6:p.Ala146=
ENST00000403184.5:c.438C>T ENSP00000383966.1:p.Ala146=
ENST00000403710.5:c.438C>T ENSP00000385917.1:p.Ala146=
ENST00000406520.7:c.438C>T ENSP00000385150.3:p.Ala146=
ENST00000407537.5:c.438C>T ENSP00000384654.2:p.Ala146=
ENST00000412786.5:c.438C>T ENSP00000403958.1:p.Ala146=
ENST00000428707.1:n.16C>T
ENST00000449653.5:c.288C>T ENSP00000416778.1:p.Ala96=
ENST00000493893.1:n.176C>T