Canonical Allele Identifier: CA719179887
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2749811
ClinVar RCV Id: RCV003568639
dbSNP Id: rs1173095727
gnomAD v4: 16-2326287-C-T
MyVariant Identifiers: chr16:g.2376288C>T (hg19) chr16:g.2326287C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326287C>T , CM000678.2:g.2326287C>T GRCh38
NC_000016.9:g.2376288C>T , CM000678.1:g.2376288C>T GRCh37
NC_000016.8:g.2316289C>T NCBI36
NG_011790.1:g.19460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.55-13G>A MANE Select ENSP00000301732.5:n.55-13G>A
ENST00000301732.9:c.55-13G>A ENSP00000301732.5:n.55-13G>A
ENST00000382381.7:c.55-13G>A ENSP00000371818.3:n.55-13G>A
ENST00000563623.5:n.618-13G>A
ENST00000567910.1:c.55-13G>A ENSP00000454397.1:n.55-13G>A
NM_001089.2:c.55-13G>A NP_001080.2:n.55-13G>A
NM_001089.3:c.55-13G>A MANE Select NP_001080.2:n.55-13G>A
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