Canonical Allele Identifier: CA276791248
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs917896201 rs2141730472
gnomAD v2: 16-2390889-C-G
gnomAD v3: 16-2340888-C-G
gnomAD v4: 16-2340888-C-G
MyVariant Identifiers: chr16:g.2390889C>G (hg19) chr16:g.2340888C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340888C>G , CM000678.2:g.2340888C>G GRCh38
NC_000016.9:g.2390889C>G , CM000678.1:g.2390889C>G GRCh37
NC_000016.8:g.2330890C>G NCBI36
NG_011790.1:g.4859G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1557C>G
ENST00000512848.5:n.182+1557C>G
Search 100 bp 5'
Search 100 bp 3'