LDH info

Canonical Allele Identifier: CA254241
Gene: CYP1B1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7735
dbSNP Id: rs55989760

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071195C>T , CM000664.2:g.38071195C>T GRCh38
NC_000002.11:g.38298338C>T , CM000664.1:g.38298338C>T GRCh37
NC_000002.10:g.38151842C>T NCBI36
NG_008386.2:g.9907G>A

Transcript Alleles

HGVS Amino-acid change
NM_000104.3:c.1159G>A VV NP_000095.2:p.Glu387Lys
NM_000104.4:c.1159G>A VV NP_000095.2:p.Glu387Lys
ENST00000492443.1:n.537G>A
ENST00000494864.1:c.46G>A ENSP00000479876.1:p.Glu16Lys
ENST00000610745.4:c.1159G>A ENSP00000478561.1:p.Glu387Lys
ENST00000613082.1:n.554G>A
ENST00000614273.1:c.1159G>A ENSP00000483678.1:p.Glu387Lys