Canonical Allele Identifier: CA719171971
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1291175999
gnomAD v3: 16-2315470-G-A
gnomAD v4: 16-2315470-G-A
MyVariant Identifiers: chr16:g.2365471G>A (hg19) chr16:g.2315470G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315470G>A , CM000678.2:g.2315470G>A GRCh38
NC_000016.9:g.2365471G>A , CM000678.1:g.2365471G>A GRCh37
NC_000016.8:g.2305472G>A NCBI36
NG_011790.1:g.30277C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1111+1813C>T MANE Select ENSP00000301732.5:n.1111+1813C>T
ENST00000301732.9:c.1111+1813C>T ENSP00000301732.5:n.1111+1813C>T
ENST00000382381.7:c.1111+1813C>T ENSP00000371818.3:n.1111+1813C>T
ENST00000563623.5:n.1674+1813C>T
NM_001089.2:c.1111+1813C>T NP_001080.2:n.1111+1813C>T
NM_001089.3:c.1111+1813C>T MANE Select NP_001080.2:n.1111+1813C>T
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