LDH info

Canonical Allele Identifier: CA344701
Gene: RBP3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 50368
ClinVar RCV Id: RCV000043517
dbSNP Id: rs146150511

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47353508G>A , CM000672.2:g.47353508G>A GRCh38
NC_000010.10:g.48385854C>T , CM000672.1:g.48385854C>T GRCh37
NC_000010.9:g.48005860C>T NCBI36
NG_029718.1:g.10138G>A

Transcript Alleles

HGVS Amino-acid change
NM_002900.2:c.3238G>A VV NP_002891.1:p.Asp1080Asn
NM_002900.3:c.3238G>A VV MANE Preferred NP_002891.1:p.Asp1080Asn
ENST00000584701.1:c.3238G>A ENSP00000463151.1:p.Asp1080Asn