ClinGen Allele Registry
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Canonical Allele Identifier:
CA13247406
Gene: MBL1P
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr10:g.79935194G>A
GRCh37
chr10:g.81694950G>A
Linked Data - Sequence & Population
gnomAD v2:
10:81694950 G / A
gnomAD v3:
10:79935194 G / A
gnomAD v4:
chr10-79935194-G-A
Joint Max Group AF
0.25134422 (SAS)
Genomes Max Group AF
0.25134422 (SAS)
Linked Data - NCBI & NCI
dbSNP:
1923539
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.79935194G>A , CM000672.2:g.79935194G>A
GRCh38
NC_000010.10:g.81694950G>A , CM000672.1:g.81694950G>A
GRCh37
NC_000010.9:g.81684930G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000421889.1:n.109-1337G>A
Search 100 bp 5'
Search 100 bp 3'