Canonical Allele Identifier: CA202648055
Gene: MANCR HGNC NCBI

Linked Data

dbSNP Id: rs867028048
gnomAD v2: 10-4719713-A-G
gnomAD v3: 10-4677521-A-G
gnomAD v4: 10-4677521-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.4677521A>G , CM000672.2:g.4677521A>G GRCh38
NC_000010.10:g.4719713A>G , CM000672.1:g.4719713A>G GRCh37
NC_000010.9:g.4709713A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_024475.1:n.22+528T>C
XR_930595.1:n.1911+702A>G
XR_930596.1:n.1900+702A>G
XR_001747338.1:n.1911+702A>G