Canonical Allele Identifier: CA9190526
Gene: ICAM5 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.10291710C>T
GRCh37 chr19:g.10402386C>T
Revel Score:
ENST00000221980 (MANE Select) 0.096
gnomAD v2:
19:10402386 C / T
gnomAD v4:
chr19-10291710-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV004133442
ClinVar Variation:
2278838
dbSNP:
757019816
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10291710C>T , CM000681.2:g.10291710C>T GRCh38
NC_000019.9:g.10402386C>T , CM000681.1:g.10402386C>T GRCh37
NC_000019.8:g.10263386C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221980.5:c.574C>T MANE Select ENSP00000221980.3:p.His192Tyr
ENST00000221980.4:c.574C>T ENSP00000221980.3:p.His192Tyr
ENST00000586480.1:n.238C>T
ENST00000587398.1:c.199C>T ENSP00000464796.1:p.His67Tyr
NM_003259.3:c.574C>T NP_003250.3:p.His192Tyr
XM_011528229.1:c.574C>T XP_011526531.1:p.His192Tyr
XR_001753749.2:n.1267C>T
NM_003259.4:c.574C>T MANE Select NP_003250.3:p.His192Tyr
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