LDH info

Canonical Allele Identifier: CA15652799
Gene: AS3MT HGNC NCBI
BORCS7-ASMT HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1046778

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102901727T>C , CM000672.2:g.102901727T>C GRCh38
NC_000010.10:g.104661484T>C , CM000672.1:g.104661484T>C GRCh37
NC_000010.9:g.104651474T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_020682.3:c.*1027T>C (AS3MT) VV NP_065733.2:p.=
NR_037644.1:n.2560T>C (BORCS7-ASMT)
XM_017017027.1:c.447-1217A>G XP_016872516.1:p.=
XR_001747577.1:n.169-1217A>G
XR_001747578.1:n.345-1217A>G
NM_020682.4:c.*1027T>C (AS3MT) VV NP_065733.2:p.=
NR_160733.1:n.169-1217A>G
ENST00000299353.6:c.*2162T>C ENSP00000299353.5:p.=
ENST00000369880.7:c.*1027T>C ENSP00000358896.3:p.=
ENST00000615257.1:c.*462T>C ENSP00000479361.1:p.=