Canonical Allele Identifier: CA2614496182
Gene:

Linked Data

gnomAD v4: 11-66510593-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66510593C>A , CM000673.2:g.66510593C>A GRCh38
NC_000011.9:g.66278064C>A , CM000673.1:g.66278064C>A GRCh37
NC_000011.8:g.66034640C>A NCBI36
NG_009093.1:g.4946C>A
NG_032068.1:g.35185C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000419755.3:c.159-420C>A ENSP00000398526.3:n.159-420C>A
Search 100 bp 5'
Search 100 bp 3'