Canonical Allele Identifier: CA966906392
Gene: SIVA1 HGNC NCBI

Linked Data

dbSNP Id: rs2498804
gnomAD v3: 14-104766758-C-G
gnomAD v4: 14-104766758-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104766758C>G , CM000676.2:g.104766758C>G GRCh38
NC_000014.8:g.105233095C>G , CM000676.1:g.105233095C>G GRCh37
NC_000014.7:g.104304140C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000553819.5:c.471-32C>G ENSP00000451427.1:n.471-32C>G
XR_001750914.2:n.113+85G>C
XR_001750915.2:n.113+85G>C
XR_001750916.2:n.120+85G>C
XR_429419.4:n.993C>G
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