Canonical Allele Identifier: CA276791252
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1045019637
gnomAD v4: 16-2340919-G-A
MyVariant Identifiers: chr16:g.2390920G>A (hg19) chr16:g.2340919G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340919G>A , CM000678.2:g.2340919G>A GRCh38
NC_000016.9:g.2390920G>A , CM000678.1:g.2390920G>A GRCh37
NC_000016.8:g.2330921G>A NCBI36
NG_011790.1:g.4828C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1588G>A
ENST00000512848.5:n.182+1588G>A
Search 100 bp 5'
Search 100 bp 3'