LDH info

Canonical Allele Identifier: CA276843208
Gene: ABCA3 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs149989682

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2317763T>C , CM000678.2:g.2317763T>C GRCh38
NC_000016.9:g.2367764T>C , CM000678.1:g.2367764T>C GRCh37
NC_000016.8:g.2307765T>C NCBI36
NG_011790.1:g.27984A>G

Transcript Alleles

HGVS Amino-acid change
NM_001089.2:c.875A>G VV NP_001080.2:p.Glu292Gly
NM_001089.3:c.875A>G VV MANE Preferred NP_001080.2:p.Glu292Gly
ENST00000301732.9:c.875A>G ENSP00000301732.5:p.Glu292Gly
ENST00000382381.7:c.875A>G ENSP00000371818.3:p.Glu292Gly
ENST00000563623.5:n.1438A>G