Canonical Allele Identifier: CA290758323
Gene:

Linked Data

dbSNP Id: rs186125733
gnomAD v3: 17-42430300-G-A
gnomAD v4: 17-42430300-G-A
MyVariant Identifiers: chr17:g.40582318G>A (hg19) chr17:g.42430300G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42430300G>A , CM000679.2:g.42430300G>A GRCh38
NC_000017.10:g.40582318G>A , CM000679.1:g.40582318G>A GRCh37
NC_000017.9:g.37835844G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934762.1:n.505+5238G>A
XR_934763.1:n.423+5238G>A
XR_934765.1:n.255+5238G>A
XR_001752890.2:n.326+5238G>A
XR_002958124.1:n.382-5966G>A
XR_934762.2:n.553+5238G>A
XR_934765.2:n.257+5238G>A
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