Canonical Allele Identifier: CA719188474
Gene: ABCA17P HGNC NCBI
ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1363369265
gnomAD v3: 16-2340734-A-C
gnomAD v4: 16-2340734-A-C
MyVariant Identifiers: chr16:g.2390735A>C (hg19) chr16:g.2340734A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340734A>C , CM000678.2:g.2340734A>C GRCh38
NC_000016.9:g.2390735A>C , CM000678.1:g.2390735A>C GRCh37
NC_000016.8:g.2330736A>C NCBI36
NG_011790.1:g.5013T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1403A>C (ABCA17P)
ENST00000301732.9:c.-700T>G (ABCA3) ENSP00000301732.5:n.-700T>G
ENST00000382381.7:c.-700T>G (ABCA3) ENSP00000371818.3:n.-700T>G
ENST00000512848.5:n.182+1403A>C (ABCA17P)
NM_001089.2:c.-700T>G (ABCA3) NP_001080.2:n.-700T>G
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