Canonical Allele Identifier: CA973791872
Gene: ABCA3 HGNC NCBI
ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs2093759527
gnomAD v3: 16-2340621-G-A
gnomAD v4: 16-2340621-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340621G>A , CM000678.2:g.2340621G>A GRCh38
NC_000016.9:g.2390622G>A , CM000678.1:g.2390622G>A GRCh37
NC_000016.8:g.2330623G>A NCBI36
NG_011790.1:g.5126C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.-587C>T (ABCA3) MANE Select ENSP00000301732.5:n.-587C>T
ENST00000640929.1:n.42+1290G>A (ABCA17P)
ENST00000301732.9:c.-587C>T (ABCA3) ENSP00000301732.5:n.-587C>T
ENST00000382381.7:c.-587C>T (ABCA3) ENSP00000371818.3:n.-587C>T
ENST00000512848.5:n.182+1290G>A (ABCA17P)
NM_001089.2:c.-587C>T (ABCA3) NP_001080.2:n.-587C>T
NM_001089.3:c.-587C>T (ABCA3) MANE Select NP_001080.2:n.-587C>T
Search 100 bp 5'
Search 100 bp 3'