LDH info

Canonical Allele Identifier: CA14987709
Gene: COMT HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs933271

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19943884T>C , CM000684.2:g.19943884T>C GRCh38
NC_000022.10:g.19931407T>C , CM000684.1:g.19931407T>C GRCh37
NC_000022.9:g.18311407T>C NCBI36
NG_011526.1:g.7145T>C
NG_011835.1:g.2953A>G , LRG_417:g.2953A>G

Transcript Alleles

HGVS Amino-acid change
NM_000754.3:c.-92+1987T>C VV NP_000745.1:p.=
XM_011529887.1:c.-92+1987T>C XP_011528189.1:p.=
XM_011529890.1:c.-386+1987T>C XP_011528192.1:p.=
XM_011529891.1:c.-386+1709T>C XP_011528193.1:p.=
NM_001362828.1:c.-386+1987T>C VV NP_001349757.1:p.=
XM_017028595.1:c.-386+1709T>C XP_016884084.1:p.=
NM_000754.4:c.-92+1987T>C VV MANE Preferred NP_000745.1:p.=
NM_001362828.2:c.-386+1987T>C VV NP_001349757.1:p.=
ENST00000361682.10:c.-92+1987T>C ENSP00000354511.6:p.=
ENST00000403184.5:c.-92+1987T>C ENSP00000383966.1:p.=
ENST00000403710.5:c.-386+1987T>C ENSP00000385917.1:p.=
ENST00000407537.5:c.-270+1987T>C ENSP00000384654.2:p.=
ENST00000467943.5:n.105+1987T>C