Canonical Allele Identifier: CA7841821
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs778818945
ExAC: 16:2376422 T / C
gnomAD v2: 16-2376422-T-C
gnomAD v4: 16-2326421-T-C
MyVariant Identifiers: chr16:g.2376422T>C (hg19) chr16:g.2326421T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326421T>C , CM000678.2:g.2326421T>C GRCh38
NC_000016.9:g.2376422T>C , CM000678.1:g.2376422T>C GRCh37
NC_000016.8:g.2316423T>C NCBI36
NG_011790.1:g.19326A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.46A>G MANE Select ENSP00000301732.5:p.Thr16Ala
ENST00000301732.9:c.46A>G ENSP00000301732.5:p.Thr16Ala
ENST00000382381.7:c.46A>G ENSP00000371818.3:p.Thr16Ala
ENST00000563623.5:n.609A>G
ENST00000567910.1:c.46A>G ENSP00000454397.1:p.Thr16Ala
NM_001089.2:c.46A>G NP_001080.2:p.Thr16Ala
NM_001089.3:c.46A>G MANE Select NP_001080.2:p.Thr16Ala
Search 100 bp 5'
Search 100 bp 3'