Canonical Allele Identifier: CA238320974
Gene: IRAK3 HGNC NCBI

Linked Data

dbSNP Id: rs957437248
gnomAD v3: 12-66250272-C-T
gnomAD v4: 12-66250272-C-T
MyVariant Identifiers: chr12:g.66644052C>T (hg19) chr12:g.66250272C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.66250272C>T , CM000674.2:g.66250272C>T GRCh38
NC_000012.11:g.66644052C>T , CM000674.1:g.66644052C>T GRCh37
NC_000012.10:g.64930319C>T NCBI36
NG_021194.1:g.66075C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261233.9:c.*2101C>T MANE Select ENSP00000261233.4:n.*2101C>T
ENST00000261233.8:c.*2101C>T ENSP00000261233.4:n.*2101C>T
NM_001142523.1:c.*2101C>T NP_001135995.1:n.*2101C>T
NM_007199.2:c.*2101C>T NP_009130.2:n.*2101C>T
NM_001142523.2:c.*2101C>T NP_001135995.1:n.*2101C>T
NM_007199.3:c.*2101C>T MANE Select NP_009130.2:n.*2101C>T
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