LDH info

Canonical Allele Identifier: CA45506580
Gene: CYP1B1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs55989760

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_000104.3:c.1159G>C VV NP_000095.2:p.Glu387Gln
NM_000104.4:c.1159G>C VV NP_000095.2:p.Glu387Gln
ENST00000492443.1:n.537G>C
ENST00000494864.1:c.46G>C ENSP00000479876.1:p.Glu16Gln
ENST00000610745.4:c.1159G>C ENSP00000478561.1:p.Glu387Gln
ENST00000613082.1:n.554G>C
ENST00000614273.1:c.1159G>C ENSP00000483678.1:p.Glu387Gln