Canonical Allele Identifier: CA2631192726
Gene: ABCA3 HGNC NCBI
ABCA17P HGNC NCBI

Linked Data

gnomAD v4: 16-2340594-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340594C>T , CM000678.2:g.2340594C>T GRCh38
NC_000016.9:g.2390595C>T , CM000678.1:g.2390595C>T GRCh37
NC_000016.8:g.2330596C>T NCBI36
NG_011790.1:g.5153G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.-560G>A (ABCA3) MANE Select ENSP00000301732.5:n.-560G>A
ENST00000640929.1:n.42+1263C>T (ABCA17P)
ENST00000301732.9:c.-560G>A (ABCA3) ENSP00000301732.5:n.-560G>A
ENST00000382381.7:c.-560G>A (ABCA3) ENSP00000371818.3:n.-560G>A
ENST00000512848.5:n.182+1263C>T (ABCA17P)
ENST00000563623.5:n.4G>A (ABCA3)
NM_001089.2:c.-560G>A (ABCA3) NP_001080.2:n.-560G>A
NM_001089.3:c.-560G>A (ABCA3) MANE Select NP_001080.2:n.-560G>A
Search 100 bp 5'
Search 100 bp 3'