Canonical Allele Identifier: CA620387796
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1453741688
gnomAD v2: 16-2339363-A-G
gnomAD v3: 16-2289362-A-G
gnomAD v4: 16-2289362-A-G
MyVariant Identifiers: chr16:g.2339363A>G (hg19) chr16:g.2289362A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289362A>G , CM000678.2:g.2289362A>G GRCh38
NC_000016.9:g.2339363A>G , CM000678.1:g.2339363A>G GRCh37
NC_000016.8:g.2279364A>G NCBI36
NG_011790.1:g.56385T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2700+72T>C MANE Select ENSP00000301732.5:n.2700+72T>C
ENST00000301732.9:c.2700+72T>C ENSP00000301732.5:n.2700+72T>C
ENST00000382381.7:c.2526+72T>C ENSP00000371818.3:n.2526+72T>C
ENST00000563623.5:n.3335T>C
NM_001089.2:c.2700+72T>C NP_001080.2:n.2700+72T>C
NM_001089.3:c.2700+72T>C MANE Select NP_001080.2:n.2700+72T>C
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