LDH info

Canonical Allele Identifier: CA254102
Gene: POU4F3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7080
ClinVar RCV Id: RCV000007496
dbSNP Id: rs121909057

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340095T>C , CM000667.2:g.146340095T>C GRCh38
NC_000005.9:g.145719658T>C , CM000667.1:g.145719658T>C GRCh37
NC_000005.8:g.145699851T>C NCBI36
NG_011885.1:g.6072T>C

Transcript Alleles

HGVS Amino-acid change
NM_002700.2:c.668T>C VV NP_002691.1:p.Leu223Pro
NM_002700.3:c.668T>C VV MANE Preferred NP_002691.1:p.Leu223Pro
ENST00000230732.4:c.668T>C ENSP00000230732.4:p.Leu223Pro