LDH info

Canonical Allele Identifier: CA3319596
Gene: BHMT HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs567754

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120593C>T , CM000667.2:g.79120593C>T GRCh38
NC_000005.9:g.78416416C>T , CM000667.1:g.78416416C>T GRCh37
NC_000005.8:g.78452172C>T NCBI36
NG_029156.1:g.13813C>T

Transcript Alleles

HGVS Amino-acid change
NM_001713.2:c.477+52C>T VV NP_001704.2:p.=
NM_001713.3:c.477+52C>T VV MANE Preferred NP_001704.2:p.=
ENST00000274353.9:c.477+52C>T ENSP00000274353.5:p.=
ENST00000518707.1:n.279-140G>A
ENST00000520388.5:n.379-140G>A
ENST00000523508.1:n.190+52C>T
ENST00000524080.1:c.166+4694C>T ENSP00000428240.1:p.=