Canonical Allele Identifier: CA276820661
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs943809541
gnomAD v4: 16-2278549-C-A
MyVariant Identifiers: chr16:g.2278549C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278549C>A , CM000678.2:g.2278549C>A GRCh38
NC_000016.9:g.2328550C>A , CM000678.1:g.2328550C>A GRCh37
NC_000016.8:g.2268551C>A NCBI36
NG_011790.1:g.67198G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-91G>T MANE Select ENSP00000301732.5:n.4548-91G>T
ENST00000301732.9:c.4548-91G>T ENSP00000301732.5:n.4548-91G>T
ENST00000382381.7:c.4374-91G>T ENSP00000371818.3:n.4374-91G>T
ENST00000566200.1:n.1069-91G>T
NM_001089.2:c.4548-91G>T NP_001080.2:n.4548-91G>T
NM_001089.3:c.4548-91G>T MANE Select NP_001080.2:n.4548-91G>T
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