Canonical Allele Identifier: CA2202178661
Gene: ABCA3 HGNC NCBI
ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs2093759547
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340630C>T , CM000678.2:g.2340630C>T GRCh38
NC_000016.9:g.2390631C>T , CM000678.1:g.2390631C>T GRCh37
NC_000016.8:g.2330632C>T NCBI36
NG_011790.1:g.5117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.-596G>A (ABCA3) MANE Select ENSP00000301732.5:n.-596G>A
ENST00000640929.1:n.42+1299C>T (ABCA17P)
ENST00000301732.9:c.-596G>A (ABCA3) ENSP00000301732.5:n.-596G>A
ENST00000382381.7:c.-596G>A (ABCA3) ENSP00000371818.3:n.-596G>A
ENST00000512848.5:n.182+1299C>T (ABCA17P)
NM_001089.2:c.-596G>A (ABCA3) NP_001080.2:n.-596G>A
NM_001089.3:c.-596G>A (ABCA3) MANE Select NP_001080.2:n.-596G>A
Search 100 bp 5'
Search 100 bp 3'