Canonical Allele Identifier: CA14429201
Gene: ITGAE HGNC NCBI
COSMIC:
COSN6656662 (not active)
COSN6656663 (not active)
MyVariant.info:
GRCh38 chr17:g.3761681A>G
GRCh37 chr17:g.3664975A>G
gnomAD v2:
17:3664975 A / G
gnomAD v3:
17:3761681 A / G
gnomAD v4:
chr17-3761681-A-G
Joint Max Group AF 0.82075755 (AFR)
Genomes Max Group AF 0.82075755 (AFR)
dbSNP:
220470
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3761681A>G , CM000679.2:g.3761681A>G GRCh38
NC_000017.10:g.3664975A>G , CM000679.1:g.3664975A>G GRCh37
NC_000017.9:g.3611724A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000263087.9:c.316-161T>C MANE Select ENSP00000263087.4:n.316-161T>C
ENST00000263087.8:c.316-161T>C ENSP00000263087.4:n.316-161T>C
NM_002208.4:c.316-161T>C NP_002199.3:n.316-161T>C
XM_011523823.1:c.367-161T>C XP_011522125.1:n.367-161T>C
XM_011523824.1:c.367-161T>C XP_011522126.1:n.367-161T>C
XM_011523825.1:c.367-161T>C XP_011522127.1:n.367-161T>C
XM_011523826.1:c.367-161T>C XP_011522128.1:n.367-161T>C
XM_011523827.1:c.367-161T>C XP_011522129.1:n.367-161T>C
XM_011523828.1:c.367-161T>C XP_011522130.1:n.367-161T>C
XR_934020.1:n.414-161T>C
XM_011523825.3:c.367-161T>C XP_011522127.1:n.367-161T>C
XM_011523827.3:c.367-161T>C XP_011522129.1:n.367-161T>C
XM_011523828.3:c.367-161T>C XP_011522130.1:n.367-161T>C
XM_017024586.1:c.367-161T>C XP_016880075.1:n.367-161T>C
XM_017024587.1:c.367-161T>C XP_016880076.1:n.367-161T>C
XM_024450740.1:c.367-161T>C XP_024306508.1:n.367-161T>C
NM_002208.5:c.316-161T>C MANE Select NP_002199.3:n.316-161T>C
Search 100 bp 5'
Search 100 bp 3'