Canonical Allele Identifier: CA973792030
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1030766347 rs2141730335
gnomAD v3: 16-2340777-C-T
gnomAD v4: 16-2340777-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340777C>T , CM000678.2:g.2340777C>T GRCh38
NC_000016.9:g.2390778C>T , CM000678.1:g.2390778C>T GRCh37
NC_000016.8:g.2330779C>T NCBI36
NG_011790.1:g.4970G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1446C>T
ENST00000512848.5:n.182+1446C>T
Search 100 bp 5'
Search 100 bp 3'