Canonical Allele Identifier: CA719188492
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1292945798
gnomAD v3: 16-2340749-C-A
gnomAD v4: 16-2340749-C-A
MyVariant Identifiers: chr16:g.2390750C>A (hg19) chr16:g.2340749C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340749C>A , CM000678.2:g.2340749C>A GRCh38
NC_000016.9:g.2390750C>A , CM000678.1:g.2390750C>A GRCh37
NC_000016.8:g.2330751C>A NCBI36
NG_011790.1:g.4998G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1418C>A
ENST00000512848.5:n.182+1418C>A
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