Canonical Allele Identifier: CA276819421
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs894488419
gnomAD v3: 16-2276593-A-T
gnomAD v4: 16-2276593-A-T
MyVariant Identifiers: chr16:g.2326594A>T (hg19) chr16:g.2276593A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276593A>T , CM000678.2:g.2276593A>T GRCh38
NC_000016.9:g.2326594A>T , CM000678.1:g.2326594A>T GRCh37
NC_000016.8:g.2266595A>T NCBI36
NG_011790.1:g.69154T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.*81T>A MANE Select ENSP00000301732.5:n.*81T>A
ENST00000301732.9:c.*81T>A ENSP00000301732.5:n.*81T>A
ENST00000382381.7:c.*81T>A ENSP00000371818.3:n.*81T>A
NM_001089.2:c.*81T>A NP_001080.2:n.*81T>A
NM_001089.3:c.*81T>A MANE Select NP_001080.2:n.*81T>A
Search 100 bp 5'
Search 100 bp 3'