LDH info

Canonical Allele Identifier: CA14291571
Gene: ABCA3 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs11867129

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315287G>T , CM000678.2:g.2315287G>T GRCh38
NC_000016.9:g.2365288G>T , CM000678.1:g.2365288G>T GRCh37
NC_000016.8:g.2305289G>T NCBI36
NG_011790.1:g.30460C>A

Transcript Alleles

HGVS Amino-acid change
NM_001089.2:c.1111+1996C>A VV NP_001080.2:p.=
NM_001089.3:c.1111+1996C>A VV MANE Preferred NP_001080.2:p.=
ENST00000301732.9:c.1111+1996C>A ENSP00000301732.5:p.=
ENST00000382381.7:c.1111+1996C>A ENSP00000371818.3:p.=
ENST00000563623.5:n.1674+1996C>A