LDH info

Canonical Allele Identifier: CA145181
Gene: CYP1B1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 68466
dbSNP Id: rs587778873

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071147_38071156dup , CM000664.2:g.38071147_38071156dup GRCh38
NC_000002.11:g.38298290_38298299dup , CM000664.1:g.38298290_38298299dup GRCh37
NC_000002.10:g.38151794_38151803dup NCBI36
NG_008386.2:g.9948_9957dup

Transcript Alleles

HGVS Amino-acid change
NM_000104.3:c.1200_1209dup VV NP_000095.2:p.Thr404SerfsTer30
ENST00000492443.1:n.578_587dup
ENST00000494864.1:c.87_96dup ENSP00000479876.1:p.Thr33SerfsTer30
ENST00000610745.4:c.1200_1209dup ENSP00000478561.1:p.Thr404SerfsTer30
ENST00000614273.1:c.1200_1209dup ENSP00000483678.1:p.Thr404SerfsTer30