Canonical Allele Identifier: CA620708641
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1164327223 rs2141730394
gnomAD v2: 16-2390818-C-T
gnomAD v3: 16-2340817-C-T
gnomAD v4: 16-2340817-C-T
MyVariant Identifiers: chr16:g.2390818C>T (hg19) chr16:g.2340817C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340817C>T , CM000678.2:g.2340817C>T GRCh38
NC_000016.9:g.2390818C>T , CM000678.1:g.2390818C>T GRCh37
NC_000016.8:g.2330819C>T NCBI36
NG_011790.1:g.4930G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1486C>T
ENST00000512848.5:n.182+1486C>T
Search 100 bp 5'
Search 100 bp 3'