Canonical Allele Identifier: CA238339348
Gene: IRAK3 HGNC NCBI

Linked Data

dbSNP Id: rs547408077
gnomAD v2: 12-66603404-C-G
gnomAD v3: 12-66209624-C-G
gnomAD v4: 12-66209624-C-G
MyVariant Identifiers: chr12:g.66603404C>G (hg19) chr12:g.66209624C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.66209624C>G , CM000674.2:g.66209624C>G GRCh38
NC_000012.11:g.66603404C>G , CM000674.1:g.66603404C>G GRCh37
NC_000012.10:g.64889671C>G NCBI36
NG_021194.1:g.25427C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261233.9:c.381+104C>G MANE Select ENSP00000261233.4:n.381+104C>G
ENST00000261233.8:c.381+104C>G ENSP00000261233.4:n.381+104C>G
ENST00000457197.2:c.198+104C>G ENSP00000409852.2:n.198+104C>G
NM_001142523.1:c.198+104C>G NP_001135995.1:n.198+104C>G
NM_007199.2:c.381+104C>G NP_009130.2:n.381+104C>G
NM_001142523.2:c.198+104C>G NP_001135995.1:n.198+104C>G
NM_007199.3:c.381+104C>G MANE Select NP_009130.2:n.381+104C>G
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