LDH info

Canonical Allele Identifier: CA15865120
Gene: ABCA3 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs17135889

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2337259G>A , CM000678.2:g.2337259G>A GRCh38
NC_000016.9:g.2387260G>A , CM000678.1:g.2387260G>A GRCh37
NC_000016.8:g.2327261G>A NCBI36
NG_011790.1:g.8488C>T

Transcript Alleles

HGVS Amino-acid change
NM_001089.2:c.-539+3314C>T VV NP_001080.2:p.=
NM_001089.3:c.-539+3314C>T VV MANE Preferred NP_001080.2:p.=
ENST00000301732.9:c.-539+3314C>T ENSP00000301732.5:p.=
ENST00000382381.7:c.-539+3314C>T ENSP00000371818.3:p.=
ENST00000563623.5:n.25+3314C>T