Canonical Allele Identifier: CA238340550

Gene: IRAK3

Linked Data

• dbSNP Id: rs527889042
• gnomAD v3: 12-66211338-C-T
• gnomAD v4: 12-66211338-C-T
• MyVariant Identifiers: chr12:g.66605118C>T (hg19) ; chr12:g.66211338C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.66211338C>T , CM000674.2:g.66211338C>T	GRCh38
NC_000012.11:g.66605118C>T , CM000674.1:g.66605118C>T	GRCh37
NC_000012.10:g.64891385C>T	NCBI36
NG_021194.1:g.27141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261233.9:c.437-108C>T MANE Select	ENSP00000261233.4:n.437-108C>T
ENST00000261233.8:c.437-108C>T	ENSP00000261233.4:n.437-108C>T
ENST00000457197.2:c.254-108C>T	ENSP00000409852.2:n.254-108C>T
NM_001142523.1:c.254-108C>T	NP_001135995.1:n.254-108C>T
NM_007199.2:c.437-108C>T	NP_009130.2:n.437-108C>T
NM_001142523.2:c.254-108C>T	NP_001135995.1:n.254-108C>T
NM_007199.3:c.437-108C>T MANE Select	NP_009130.2:n.437-108C>T