Canonical Allele Identifier: CA620387416
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1367921513
gnomAD v2: 16-2326638-T-C
gnomAD v3: 16-2276637-T-C
gnomAD v4: 16-2276637-T-C
MyVariant Identifiers: chr16:g.2326638T>C (hg19) chr16:g.2276637T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276637T>C , CM000678.2:g.2276637T>C GRCh38
NC_000016.9:g.2326638T>C , CM000678.1:g.2326638T>C GRCh37
NC_000016.8:g.2266639T>C NCBI36
NG_011790.1:g.69110A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.*37A>G MANE Select ENSP00000301732.5:n.*37A>G
ENST00000301732.9:c.*37A>G ENSP00000301732.5:n.*37A>G
ENST00000382381.7:c.*37A>G ENSP00000371818.3:n.*37A>G
NM_001089.2:c.*37A>G NP_001080.2:n.*37A>G
NM_001089.3:c.*37A>G MANE Select NP_001080.2:n.*37A>G
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