Canonical Allele Identifier: CA764815944

Gene: DIRC3

Linked Data

• dbSNP Id: rs1422405828
• gnomAD v3: 2-217445642-T-G
• gnomAD v4: 2-217445642-T-G
• MyVariant Identifiers: chr2:g.218310365T>G (hg19) ; chr2:g.217445642T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.217445642T>G , CM000664.2:g.217445642T>G	GRCh38
NC_000002.11:g.218310365T>G , CM000664.1:g.218310365T>G	GRCh37
NC_000002.10:g.218018610T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000474063.5:n.500-11526A>C
ENST00000486365.5:n.1523-11526A>C
NR_026597.1:n.1523-11526A>C
NR_026597.2:n.1523-11526A>C