Canonical Allele Identifier: CA11943699
Gene: IL13 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.132660808A>C
GRCh37 chr5:g.131996500A>C
gnomAD v2:
5:131996500 A / C
gnomAD v3:
5:132660808 A / C
gnomAD v4:
chr5-132660808-A-C
Joint Max Group AF 0.7912764 (NFE)
Genomes Max Group AF 0.78983481 (NFE)
Exomes Max Group AF 0.79715626 (NFE)
dbSNP:
848
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132660808A>C , CM000667.2:g.132660808A>C GRCh38
NC_000005.9:g.131996500A>C , CM000667.1:g.131996500A>C GRCh37
NC_000005.8:g.132024399A>C NCBI36
NG_012090.1:g.7636A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304506.7:c.*526A>C MANE Select ENSP00000304915.3:n.*526A>C
NM_002188.2:c.*526A>C NP_002179.2:n.*526A>C
NM_001354991.1:c.*526A>C NP_001341920.1:n.*526A>C
NM_001354992.1:c.*526A>C NP_001341921.1:n.*526A>C
NM_001354993.1:c.*526A>C NP_001341922.1:n.*526A>C
NM_002188.3:c.*526A>C MANE Select NP_002179.2:n.*526A>C
NM_001354991.2:c.*526A>C NP_001341920.1:n.*526A>C
NM_001354992.2:c.*526A>C NP_001341921.1:n.*526A>C
NM_001354993.2:c.*526A>C NP_001341922.1:n.*526A>C
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