Canonical Allele Identifier: CA620708665
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1227448682
gnomAD v2: 16-2390872-C-A
gnomAD v3: 16-2340871-C-A
gnomAD v4: 16-2340871-C-A
MyVariant Identifiers: chr16:g.2390872C>A (hg19) chr16:g.2340871C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340871C>A , CM000678.2:g.2340871C>A GRCh38
NC_000016.9:g.2390872C>A , CM000678.1:g.2390872C>A GRCh37
NC_000016.8:g.2330873C>A NCBI36
NG_011790.1:g.4876G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1540C>A
ENST00000512848.5:n.182+1540C>A
Search 100 bp 5'
Search 100 bp 3'