Canonical Allele Identifier: CA973791875
Gene: ABCA3 HGNC NCBI
ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs2093759540
gnomAD v3: 16-2340626-C-T
gnomAD v4: 16-2340626-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340626C>T , CM000678.2:g.2340626C>T GRCh38
NC_000016.9:g.2390627C>T , CM000678.1:g.2390627C>T GRCh37
NC_000016.8:g.2330628C>T NCBI36
NG_011790.1:g.5121G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.-592G>A (ABCA3) MANE Select ENSP00000301732.5:n.-592G>A
ENST00000640929.1:n.42+1295C>T (ABCA17P)
ENST00000301732.9:c.-592G>A (ABCA3) ENSP00000301732.5:n.-592G>A
ENST00000382381.7:c.-592G>A (ABCA3) ENSP00000371818.3:n.-592G>A
ENST00000512848.5:n.182+1295C>T (ABCA17P)
NM_001089.2:c.-592G>A (ABCA3) NP_001080.2:n.-592G>A
NM_001089.3:c.-592G>A (ABCA3) MANE Select NP_001080.2:n.-592G>A
Search 100 bp 5'
Search 100 bp 3'