Canonical Allele Identifier: CA395683232

Gene: ITGAM

Linked Data

• ClinVar Variation Id: 2868687
• ClinVar RCV Id: RCV003698093
• dbSNP Id: rs1178750357
• gnomAD v2: 16-31276801-G-A
• gnomAD v3: 16-31265480-G-A
• gnomAD v4: 16-31265480-G-A
• MyVariant Identifiers: chr16:g.31276801G>A (hg19) ; chr16:g.31265480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31265480G>A , CM000678.2:g.31265480G>A	GRCh38
NC_000016.9:g.31276801G>A , CM000678.1:g.31276801G>A	GRCh37
NC_000016.8:g.31184302G>A	NCBI36
NG_011719.1:g.10514G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544665.9:c.220G>A MANE Select	ENSP00000441691.3:p.Glu74Lys
ENST00000648685.1:c.220G>A	ENSP00000496959.1:p.Glu74Lys
ENST00000287497.12:c.220G>A	ENSP00000287497.8:p.Glu74Lys
ENST00000544665.7:c.220G>A	ENSP00000441691.2:p.Glu74Lys
NM_000632.3:c.220G>A	NP_000623.2:p.Glu74Lys
NM_001145808.1:c.220G>A	NP_001139280.1:p.Glu74Lys
XM_006721045.1:c.220G>A	XP_006721108.1:p.Glu74Lys
XM_011545850.1:c.5G>A	XP_011544152.1:p.Arg2Gln
XM_011545851.1:c.220G>A	XP_011544153.1:p.Glu74Lys
XR_950796.1:n.310G>A
XM_011545850.2:c.5G>A	XP_011544152.1:p.Arg2Gln
XM_011545851.2:c.220G>A	XP_011544153.1:p.Glu74Lys
XM_017023216.1:c.220G>A	XP_016878705.1:p.Glu74Lys
NM_000632.4:c.220G>A MANE Select	NP_000623.2:p.Glu74Lys
NM_001145808.2:c.220G>A	NP_001139280.1:p.Glu74Lys