Canonical Allele Identifier: CA13392994
Gene: ANKRD49 HGNC NCBI
MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1291079
ClinVar RCV Id: RCV001716768
dbSNP Id: rs11020802
gnomAD v2: 11-94227125-C-A
gnomAD v3: 11-94493959-C-A
gnomAD v4: 11-94493959-C-A
MyVariant Identifiers: chr11:g.94227125C>A (hg19) chr11:g.94493959C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94493959C>A , CM000673.2:g.94493959C>A GRCh38
NC_000011.9:g.94227125C>A , CM000673.1:g.94227125C>A GRCh37
NC_000011.8:g.93866773C>A NCBI36
NG_007261.1:g.4916G>T , LRG_85:g.4916G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000544612.5:c.-167C>A (ANKRD49) ENSP00000440396.1:n.-167C>A
XM_011542837.1:c.-105-1053G>T (MRE11) XP_011541139.1:n.-105-1053G>T
XM_011542837.2:c.-105-1053G>T (MRE11) XP_011541139.1:n.-105-1053G>T
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