LDH info

Canonical Allele Identifier: CA115193
Gene: CYP17A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1797
ClinVar RCV Id: RCV000001870
dbSNP Id: rs104894143

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102831535A>G , CM000672.2:g.102831535A>G GRCh38
NC_000010.10:g.104591292A>G , CM000672.1:g.104591292A>G GRCh37
NC_000010.9:g.104581282A>G NCBI36
NG_007955.1:g.10999T>C

Transcript Alleles

HGVS Amino-acid change
NM_000102.3:c.1216T>C VV NP_000093.1:p.Trp406Arg
NM_000102.4:c.1216T>C VV MANE Preferred NP_000093.1:p.Trp406Arg
ENST00000369887.3:c.1216T>C ENSP00000358903.3:p.Trp406Arg
ENST00000469683.1:n.169T>C