Canonical Allele Identifier: CA719188556
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1293378041 rs2141730337
gnomAD v3: 16-2340780-G-C
gnomAD v4: 16-2340780-G-C
MyVariant Identifiers: chr16:g.2390781G>C (hg19) chr16:g.2340780G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340780G>C , CM000678.2:g.2340780G>C GRCh38
NC_000016.9:g.2390781G>C , CM000678.1:g.2390781G>C GRCh37
NC_000016.8:g.2330782G>C NCBI36
NG_011790.1:g.4967C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1449G>C
ENST00000512848.5:n.182+1449G>C
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