Canonical Allele Identifier: CA127628863
Gene:

Linked Data

dbSNP Id: rs552043443
gnomAD v3: 5-129386993-G-A
gnomAD v4: 5-129386993-G-A
MyVariant Identifiers: chr5:g.128722686G>A (hg19) chr5:g.129386993G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.129386993G>A , CM000667.2:g.129386993G>A GRCh38
NC_000005.9:g.128722686G>A , CM000667.1:g.128722686G>A GRCh37
NC_000005.8:g.128750585G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_427770.2:n.163-1455G>A
XR_948774.1:n.235-5658G>A
XR_001742463.1:n.4089-1455G>A
XR_001742464.1:n.2019-5658G>A
XR_001742465.1:n.401-1455G>A
XR_427770.3:n.337-1455G>A
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