Canonical Allele Identifier: CA13461078
Gene: MADD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.47269208A>C
GRCh37 chr11:g.47290759A>C
gnomAD v2:
11:47290759 A / C
gnomAD v3:
11:47269208 A / C
gnomAD v4:
chr11-47269208-A-C
Joint Max Group AF 0.57867896 (EAS)
Genomes Max Group AF 0.57910469 (EAS)
Exomes Max Group AF 0.25443325 (AMR)
dbSNP:
1449626
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47269208A>C , CM000673.2:g.47269208A>C GRCh38
NC_000011.9:g.47290759A>C , CM000673.1:g.47290759A>C GRCh37
NC_000011.8:g.47247335A>C NCBI36
NG_029462.1:g.4833A>C
NG_030392.1:g.25909A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453571.5:c.-164A>C ENSP00000388255.1:n.-164A>C
NM_001376651.1:c.-164A>C NP_001363580.1:n.-164A>C
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