Canonical Allele Identifier: CA276791206
Gene: ABCA17P HGNC NCBI
ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1005269740
gnomAD v3: 16-2340744-C-A
gnomAD v4: 16-2340744-C-A
MyVariant Identifiers: chr16:g.2390745C>A (hg19) chr16:g.2340744C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340744C>A , CM000678.2:g.2340744C>A GRCh38
NC_000016.9:g.2390745C>A , CM000678.1:g.2390745C>A GRCh37
NC_000016.8:g.2330746C>A NCBI36
NG_011790.1:g.5003G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1413C>A (ABCA17P)
ENST00000382381.7:c.-710G>T (ABCA3) ENSP00000371818.3:n.-710G>T
ENST00000512848.5:n.182+1413C>A (ABCA17P)
NM_001089.2:c.-710G>T (ABCA3) NP_001080.2:n.-710G>T
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