Canonical Allele Identifier: CA620708668
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1445596696 rs2141730486
gnomAD v2: 16-2390910-T-G
gnomAD v3: 16-2340909-T-G
gnomAD v4: 16-2340909-T-G
MyVariant Identifiers: chr16:g.2390910T>G (hg19) chr16:g.2340909T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340909T>G , CM000678.2:g.2340909T>G GRCh38
NC_000016.9:g.2390910T>G , CM000678.1:g.2390910T>G GRCh37
NC_000016.8:g.2330911T>G NCBI36
NG_011790.1:g.4838A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1578T>G
ENST00000512848.5:n.182+1578T>G
Search 100 bp 5'
Search 100 bp 3'