Canonical Allele Identifier: CA276791246
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs914074694 rs2141730461
gnomAD v2: 16-2390880-T-G
gnomAD v3: 16-2340879-T-G
gnomAD v4: 16-2340879-T-G
MyVariant Identifiers: chr16:g.2390880T>G (hg19) chr16:g.2340879T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340879T>G , CM000678.2:g.2340879T>G GRCh38
NC_000016.9:g.2390880T>G , CM000678.1:g.2390880T>G GRCh37
NC_000016.8:g.2330881T>G NCBI36
NG_011790.1:g.4868A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1548T>G
ENST00000512848.5:n.182+1548T>G
Search 100 bp 5'
Search 100 bp 3'