Canonical Allele Identifier: CA13592056
Gene: IRAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1821777
gnomAD v2: 12-66606228-C-T
gnomAD v3: 12-66212448-C-T
gnomAD v4: 12-66212448-C-T
MyVariant Identifiers: chr12:g.66606228C>T (hg19) chr12:g.66212448C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.66212448C>T , CM000674.2:g.66212448C>T GRCh38
NC_000012.11:g.66606228C>T , CM000674.1:g.66606228C>T GRCh37
NC_000012.10:g.64892495C>T NCBI36
NG_021194.1:g.28251C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261233.9:c.588+851C>T MANE Select ENSP00000261233.4:n.588+851C>T
ENST00000261233.8:c.588+851C>T ENSP00000261233.4:n.588+851C>T
ENST00000457197.2:c.405+851C>T ENSP00000409852.2:n.405+851C>T
NM_001142523.1:c.405+851C>T NP_001135995.1:n.405+851C>T
NM_007199.2:c.588+851C>T NP_009130.2:n.588+851C>T
NM_001142523.2:c.405+851C>T NP_001135995.1:n.405+851C>T
NM_007199.3:c.588+851C>T MANE Select NP_009130.2:n.588+851C>T
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