Canonical Allele Identifier: CA620708631
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1292945798 rs2141730236
gnomAD v2: 16-2390750-C-G
gnomAD v3: 16-2340749-C-G
gnomAD v4: 16-2340749-C-G
MyVariant Identifiers: chr16:g.2390750C>G (hg19) chr16:g.2340749C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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