ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA16395531
Gene: MBL1P
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr10:g.79935452A>G
GRCh37
chr10:g.81695208A>G
Linked Data - Sequence & Population
gnomAD v2:
10:81695208 A / G
gnomAD v3:
10:79935452 A / G
gnomAD v4:
chr10-79935452-A-G
Joint Max Group AF
0.46804131 (EAS)
Genomes Max Group AF
0.46804131 (EAS)
Linked Data - NCBI & NCI
dbSNP:
1923537
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.79935452A>G , CM000672.2:g.79935452A>G
GRCh38
NC_000010.10:g.81695208A>G , CM000672.1:g.81695208A>G
GRCh37
NC_000010.9:g.81685188A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000421889.1:n.109-1079A>G
Search 100 bp 5'
Search 100 bp 3'