Canonical Allele Identifier: CA276790654
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1012642850
gnomAD v2: 16-2387223-G-A
gnomAD v3: 16-2337222-G-A
gnomAD v4: 16-2337222-G-A
MyVariant Identifiers: chr16:g.2387223G>A (hg19) chr16:g.2337222G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2337222G>A , CM000678.2:g.2337222G>A GRCh38
NC_000016.9:g.2387223G>A , CM000678.1:g.2387223G>A GRCh37
NC_000016.8:g.2327224G>A NCBI36
NG_011790.1:g.8525C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.-539+3351C>T MANE Select ENSP00000301732.5:n.-539+3351C>T
ENST00000301732.9:c.-539+3351C>T ENSP00000301732.5:n.-539+3351C>T
ENST00000382381.7:c.-539+3351C>T ENSP00000371818.3:n.-539+3351C>T
ENST00000563623.5:n.25+3351C>T
NM_001089.2:c.-539+3351C>T NP_001080.2:n.-539+3351C>T
NM_001089.3:c.-539+3351C>T MANE Select NP_001080.2:n.-539+3351C>T
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