LDH info

Canonical Allele Identifier: CA120852
Gene: MAOA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9967
ClinVar RCV Id: RCV000010645
dbSNP Id: rs72554632

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43731784C>T , CM000685.2:g.43731784C>T GRCh38
NC_000023.10:g.43591031C>T , CM000685.1:g.43591031C>T GRCh37
NC_000023.9:g.43475975C>T NCBI36
NG_008957.2:g.80624C>T

Transcript Alleles

HGVS Amino-acid change
NM_000240.3:c.886C>T VV NP_000231.1:p.Gln296Ter
NM_001270458.1:c.487C>T VV NP_001257387.1:p.Gln163Ter
NM_000240.4:c.886C>T VV MANE Preferred NP_000231.1:p.Gln296Ter
NM_001270458.2:c.487C>T VV NP_001257387.1:p.Gln163Ter
ENST00000338702.3:c.886C>T ENSP00000340684.3:p.Gln296Ter
ENST00000542639.5:c.487C>T ENSP00000440846.1:p.Gln163Ter