Canonical Allele Identifier: CA7841769
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs774682550
ExAC: 16:2376164 T / C
gnomAD v2: 16-2376164-T-C
gnomAD v4: 16-2326163-T-C
MyVariant Identifiers: chr16:g.2376164T>C (hg19) chr16:g.2326163T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326163T>C , CM000678.2:g.2326163T>C GRCh38
NC_000016.9:g.2376164T>C , CM000678.1:g.2376164T>C GRCh37
NC_000016.8:g.2316165T>C NCBI36
NG_011790.1:g.19584A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.166A>G MANE Select ENSP00000301732.5:p.Ile56Val
ENST00000301732.9:c.166A>G ENSP00000301732.5:p.Ile56Val
ENST00000382381.7:c.166A>G ENSP00000371818.3:p.Ile56Val
ENST00000563623.5:n.729A>G
ENST00000567910.1:c.166A>G ENSP00000454397.1:p.Ile56Val
NM_001089.2:c.166A>G NP_001080.2:p.Ile56Val
NM_001089.3:c.166A>G MANE Select NP_001080.2:p.Ile56Val
Search 100 bp 5'
Search 100 bp 3'