Canonical Allele Identifier: CA2590066778
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs952217495
gnomAD v3: 16-2340833-C-A
gnomAD v4: 16-2340833-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340833C>A , CM000678.2:g.2340833C>A GRCh38
NC_000016.9:g.2390834C>A , CM000678.1:g.2390834C>A GRCh37
NC_000016.8:g.2330835C>A NCBI36
NG_011790.1:g.4914G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1502C>A
ENST00000512848.5:n.182+1502C>A
Search 100 bp 5'
Search 100 bp 3'