Canonical Allele Identifier: CA6672578
Gene: IRAK3 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.66203921C>T
GRCh37 chr12:g.66597701C>T
gnomAD v2:
12:66597701 C / T
gnomAD v3:
12:66203921 C / T
gnomAD v4:
chr12-66203921-C-T
Joint Max Group AF 0.3127398 (MID)
Genomes Max Group AF 0.28682918 (NFE)
Exomes Max Group AF 0.31061528 (MID)
dbSNP:
1882200
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.66203921C>T , CM000674.2:g.66203921C>T GRCh38
NC_000012.11:g.66597701C>T , CM000674.1:g.66597701C>T GRCh37
NC_000012.10:g.64883968C>T NCBI36
NG_021194.1:g.19724C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261233.9:c.316+28C>T MANE Select ENSP00000261233.4:n.316+28C>T
ENST00000261233.8:c.316+28C>T ENSP00000261233.4:n.316+28C>T
ENST00000457197.2:c.134-5535C>T ENSP00000409852.2:n.134-5535C>T
NM_001142523.1:c.134-5535C>T NP_001135995.1:n.134-5535C>T
NM_007199.2:c.316+28C>T NP_009130.2:n.316+28C>T
NM_001142523.2:c.134-5535C>T NP_001135995.1:n.134-5535C>T
NM_007199.3:c.316+28C>T MANE Select NP_009130.2:n.316+28C>T
Search 100 bp 5'
Search 100 bp 3'