Canonical Allele Identifier: CA2631185717
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2276649-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276649C>G , CM000678.2:g.2276649C>G GRCh38
NC_000016.9:g.2326650C>G , CM000678.1:g.2326650C>G GRCh37
NC_000016.8:g.2266651C>G NCBI36
NG_011790.1:g.69098G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.*25G>C MANE Select ENSP00000301732.5:n.*25G>C
ENST00000301732.9:c.*25G>C ENSP00000301732.5:n.*25G>C
ENST00000382381.7:c.*25G>C ENSP00000371818.3:n.*25G>C
NM_001089.2:c.*25G>C NP_001080.2:n.*25G>C
NM_001089.3:c.*25G>C MANE Select NP_001080.2:n.*25G>C
Search 100 bp 5'
Search 100 bp 3'