Canonical Allele Identifier: CA691068601
Gene: IRAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1430547042
gnomAD v3: 12-66250293-T-C
gnomAD v4: 12-66250293-T-C
MyVariant Identifiers: chr12:g.66644073T>C (hg19) chr12:g.66250293T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.66250293T>C , CM000674.2:g.66250293T>C GRCh38
NC_000012.11:g.66644073T>C , CM000674.1:g.66644073T>C GRCh37
NC_000012.10:g.64930340T>C NCBI36
NG_021194.1:g.66096T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261233.9:c.*2122T>C MANE Select ENSP00000261233.4:n.*2122T>C
ENST00000261233.8:c.*2122T>C ENSP00000261233.4:n.*2122T>C
NM_001142523.1:c.*2122T>C NP_001135995.1:n.*2122T>C
NM_007199.2:c.*2122T>C NP_009130.2:n.*2122T>C
NM_001142523.2:c.*2122T>C NP_001135995.1:n.*2122T>C
NM_007199.3:c.*2122T>C MANE Select NP_009130.2:n.*2122T>C
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