Canonical Allele Identifier: CA764815887
Gene: DIRC3 HGNC NCBI

Linked Data

dbSNP Id: rs1269652234
gnomAD v3: 2-217445603-G-A
gnomAD v4: 2-217445603-G-A
MyVariant Identifiers: chr2:g.218310326G>A (hg19) chr2:g.217445603G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.217445603G>A , CM000664.2:g.217445603G>A GRCh38
NC_000002.11:g.218310326G>A , CM000664.1:g.218310326G>A GRCh37
NC_000002.10:g.218018571G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000474063.5:n.500-11487C>T
ENST00000486365.5:n.1523-11487C>T
NR_026597.1:n.1523-11487C>T
NR_026597.2:n.1523-11487C>T
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