LDH info

Canonical Allele Identifier: CA115747
Gene: GBE1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2779
dbSNP Id: rs80338672

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81578000G>A , CM000665.2:g.81578000G>A GRCh38
NC_000003.11:g.81627151G>A , CM000665.1:g.81627151G>A GRCh37
NC_000003.10:g.81709841G>A NCBI36
NG_011810.1:g.188801C>T

Transcript Alleles

HGVS Amino-acid change
NM_000158.3:c.1543C>T VV NP_000149.3:p.Arg515Cys
NM_000158.4:c.1543C>T VV MANE Preferred NP_000149.4:p.Arg515Cys
ENST00000429644.6:c.1543C>T ENSP00000410833.2:p.Arg515Cys
ENST00000489715.1:c.1420C>T ENSP00000419638.1:p.Arg474Cys