LDH info

Canonical Allele Identifier: CA7660065
Gene: CYP1A2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs28399424
COSMIC: COSM471061

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74754828C>T , CM000677.2:g.74754828C>T GRCh38
NC_000015.9:g.75047169C>T , CM000677.1:g.75047169C>T GRCh37
NC_000015.8:g.72834222C>T NCBI36
NG_008431.1:g.37287C>T
NG_008431.2:g.37287C>T
NG_061543.1:g.10984C>T

Transcript Alleles

HGVS Amino-acid change
NM_000761.4:c.1291C>T VV NP_000752.2:p.Arg431Trp
NM_000761.5:c.1291C>T VV MANE Preferred NP_000752.2:p.Arg431Trp
ENST00000343932.4:c.1291C>T ENSP00000342007.4:p.Arg431Trp