Canonical Allele Identifier: CA719188635
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1319116195
gnomAD v3: 16-2340873-T-C
gnomAD v4: 16-2340873-T-C
MyVariant Identifiers: chr16:g.2390874T>C (hg19) chr16:g.2340873T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340873T>C , CM000678.2:g.2340873T>C GRCh38
NC_000016.9:g.2390874T>C , CM000678.1:g.2390874T>C GRCh37
NC_000016.8:g.2330875T>C NCBI36
NG_011790.1:g.4874A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1542T>C
ENST00000512848.5:n.182+1542T>C
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