Canonical Allele Identifier: CA119217
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8015
ClinVar RCV Id: RCV000008479
dbSNP Id: rs121909184

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2299442T>C , CM000678.2:g.2299442T>C GRCh38
NC_000016.9:g.2349443T>C , CM000678.1:g.2349443T>C GRCh37
NC_000016.8:g.2289444T>C NCBI36
NG_011790.1:g.46305A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.1702A>G MANE Select ENSP00000301732.5:p.Asn568Asp
ENST00000301732.9:c.1702A>G ENSP00000301732.5:p.Asn568Asp
ENST00000382381.7:c.1528A>G ENSP00000371818.3:p.Asn510Asp
ENST00000563623.5:n.2265A>G
NM_001089.2:c.1702A>G NP_001080.2:p.Asn568Asp
NM_001089.3:c.1702A>G MANE Select NP_001080.2:p.Asn568Asp