LDH info

Canonical Allele Identifier: CA16040938
Gene: AGA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371140
ClinVar RCV Id: RCV000411846
COSMIC: COSM271095

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442375T>C , CM000666.2:g.177442375T>C GRCh38
NC_000004.11:g.178363529T>C , CM000666.1:g.178363529T>C GRCh37
NC_000004.10:g.178600523T>C NCBI36
NG_011845.2:g.5129A>G

Transcript Alleles

HGVS Amino-acid change
NM_000027.3:c.1A>G VV
NM_001171988.1:c.1A>G VV
NR_033655.1:n.129A>G
XM_006714123.2:c.1A>G
XR_001741155.2:n.95A>G
NM_000027.4:c.1A>G VV MANE Preferred
ENST00000264595.6:c.1A>G
ENST00000506853.5:n.35A>G
ENST00000510955.5:n.35A>G
ENST00000511231.1:n.35A>G