Canonical Allele Identifier: CA7841814
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs372726384
ExAC: 16:2376381 C / T
gnomAD v2: 16-2376381-C-T
gnomAD v3: 16-2326380-C-T
gnomAD v4: 16-2326380-C-T
MyVariant Identifiers: chr16:g.2376381C>T (hg19) chr16:g.2326380C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326380C>T , CM000678.2:g.2326380C>T GRCh38
NC_000016.9:g.2376381C>T , CM000678.1:g.2376381C>T GRCh37
NC_000016.8:g.2316382C>T NCBI36
NG_011790.1:g.19367G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.54+33G>A MANE Select ENSP00000301732.5:n.54+33G>A
ENST00000301732.9:c.54+33G>A ENSP00000301732.5:n.54+33G>A
ENST00000382381.7:c.54+33G>A ENSP00000371818.3:n.54+33G>A
ENST00000563623.5:n.617+33G>A
ENST00000567910.1:c.54+33G>A ENSP00000454397.1:n.54+33G>A
NM_001089.2:c.54+33G>A NP_001080.2:n.54+33G>A
NM_001089.3:c.54+33G>A MANE Select NP_001080.2:n.54+33G>A
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