Canonical Allele Identifier: CA620708630
Gene: ABCA17P HGNC NCBI
ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1367626873
gnomAD v2: 16-2390747-C-T
gnomAD v3: 16-2340746-C-T
gnomAD v4: 16-2340746-C-T
MyVariant Identifiers: chr16:g.2390747C>T (hg19) chr16:g.2340746C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340746C>T , CM000678.2:g.2340746C>T GRCh38
NC_000016.9:g.2390747C>T , CM000678.1:g.2390747C>T GRCh37
NC_000016.8:g.2330748C>T NCBI36
NG_011790.1:g.5001G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1415C>T (ABCA17P)
ENST00000382381.7:c.-712G>A (ABCA3) ENSP00000371818.3:n.-712G>A
ENST00000512848.5:n.182+1415C>T (ABCA17P)
NM_001089.2:c.-712G>A (ABCA3) NP_001080.2:n.-712G>A
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