Canonical Allele Identifier: CA395683084
Gene: ITGAM HGNC NCBI

Linked Data

ClinVar Variation Id: 2134709
ClinVar RCV Id: RCV003065944

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31265465A>T , CM000678.2:g.31265465A>T GRCh38
NC_000016.9:g.31276786A>T , CM000678.1:g.31276786A>T GRCh37
NC_000016.8:g.31184287A>T NCBI36
NG_011719.1:g.10499A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000544665.9:c.205A>T MANE Select ENSP00000441691.3:p.Ser69Cys
ENST00000648685.1:c.205A>T ENSP00000496959.1:p.Ser69Cys
ENST00000287497.12:c.205A>T ENSP00000287497.8:p.Ser69Cys
ENST00000544665.7:c.205A>T ENSP00000441691.2:p.Ser69Cys
NM_000632.3:c.205A>T NP_000623.2:p.Ser69Cys
NM_001145808.1:c.205A>T NP_001139280.1:p.Ser69Cys
XM_006721045.1:c.205A>T XP_006721108.1:p.Ser69Cys
XM_011545850.1:c.-11A>T XP_011544152.1:n.-11A>T
XM_011545851.1:c.205A>T XP_011544153.1:p.Ser69Cys
XR_950796.1:n.295A>T
XM_011545850.2:c.-11A>T XP_011544152.1:n.-11A>T
XM_011545851.2:c.205A>T XP_011544153.1:p.Ser69Cys
XM_017023216.1:c.205A>T XP_016878705.1:p.Ser69Cys
NM_000632.4:c.205A>T MANE Select NP_000623.2:p.Ser69Cys
NM_001145808.2:c.205A>T NP_001139280.1:p.Ser69Cys