Canonical Allele Identifier: CA385617957
Gene: IRAK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.66597500T>A (hg19) chr12:g.66203720T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.66203720T>A , CM000674.2:g.66203720T>A GRCh38
NC_000012.11:g.66597500T>A , CM000674.1:g.66597500T>A GRCh37
NC_000012.10:g.64883767T>A NCBI36
NG_021194.1:g.19523T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261233.9:c.143T>A MANE Select ENSP00000261233.4:p.Leu48His
ENST00000261233.8:c.143T>A ENSP00000261233.4:p.Leu48His
ENST00000457197.2:c.134-5736T>A ENSP00000409852.2:n.134-5736T>A
NM_001142523.1:c.134-5736T>A NP_001135995.1:n.134-5736T>A
NM_007199.2:c.143T>A NP_009130.2:p.Leu48His
NM_001142523.2:c.134-5736T>A NP_001135995.1:n.134-5736T>A
NM_007199.3:c.143T>A MANE Select NP_009130.2:p.Leu48His
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