Canonical Allele Identifier: CA385618484
Gene: IRAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2052591911
gnomAD v3: 12-66209522-T-G
gnomAD v4: 12-66209522-T-G
MyVariant Identifiers: chr12:g.66603302T>G (hg19) chr12:g.66209522T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.66209522T>G , CM000674.2:g.66209522T>G GRCh38
NC_000012.11:g.66603302T>G , CM000674.1:g.66603302T>G GRCh37
NC_000012.10:g.64889569T>G NCBI36
NG_021194.1:g.25325T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261233.9:c.381+2T>G MANE Select ENSP00000261233.4:n.381+2T>G
ENST00000261233.8:c.381+2T>G ENSP00000261233.4:n.381+2T>G
ENST00000457197.2:c.198+2T>G ENSP00000409852.2:n.198+2T>G
NM_001142523.1:c.198+2T>G NP_001135995.1:n.198+2T>G
NM_007199.2:c.381+2T>G NP_009130.2:n.381+2T>G
NM_001142523.2:c.198+2T>G NP_001135995.1:n.198+2T>G
NM_007199.3:c.381+2T>G MANE Select NP_009130.2:n.381+2T>G
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