Canonical Allele Identifier: CA276819447
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs35174635
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276645dup , CM000678.2:g.2276645dup GRCh38
NC_000016.9:g.2326646dup , CM000678.1:g.2326646dup GRCh37
NC_000016.8:g.2266647dup NCBI36
NG_011790.1:g.69104dup

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.*31dup MANE Select ENSP00000301732.5:n.*31dup
ENST00000301732.9:c.*31dup ENSP00000301732.5:n.*31dup
ENST00000382381.7:c.*31dup ENSP00000371818.3:n.*31dup
NM_001089.2:c.*31dup NP_001080.2:n.*31dup
NM_001089.3:c.*31dup MANE Select NP_001080.2:n.*31dup
Search 100 bp 5'
Search 100 bp 3'