Canonical Allele Identifier: CA2631192798
Gene: ABCA17P HGNC NCBI
ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2340745-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340745G>T , CM000678.2:g.2340745G>T GRCh38
NC_000016.9:g.2390746G>T , CM000678.1:g.2390746G>T GRCh37
NC_000016.8:g.2330747G>T NCBI36
NG_011790.1:g.5002C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1414G>T (ABCA17P)
ENST00000382381.7:c.-711C>A (ABCA3) ENSP00000371818.3:n.-711C>A
ENST00000512848.5:n.182+1414G>T (ABCA17P)
NM_001089.2:c.-711C>A (ABCA3) NP_001080.2:n.-711C>A
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