Canonical Allele Identifier: CA8025136

Gene: ITGAM

Linked Data

• ClinVar Variation Id: 2058184
• ClinVar RCV Id: RCV002928441
• dbSNP Id: rs771140735
• ExAC: 16:31276730 C / G
• gnomAD v2: 16-31276730-C-G
• gnomAD v4: 16-31265409-C-G
• MyVariant Identifiers: chr16:g.31276730C>G (hg19) ; chr16:g.31265409C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31265409C>G , CM000678.2:g.31265409C>G	GRCh38
NC_000016.9:g.31276730C>G , CM000678.1:g.31276730C>G	GRCh37
NC_000016.8:g.31184231C>G	NCBI36
NG_011719.1:g.10443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544665.9:c.149C>G MANE Select	ENSP00000441691.3:p.Ala50Gly
ENST00000648685.1:c.149C>G	ENSP00000496959.1:p.Ala50Gly
ENST00000287497.12:c.149C>G	ENSP00000287497.8:p.Ala50Gly
ENST00000544665.7:c.149C>G	ENSP00000441691.2:p.Ala50Gly
NM_000632.3:c.149C>G	NP_000623.2:p.Ala50Gly
NM_001145808.1:c.149C>G	NP_001139280.1:p.Ala50Gly
XM_006721045.1:c.149C>G	XP_006721108.1:p.Ala50Gly
XM_011545850.1:c.-67C>G	XP_011544152.1:n.-67C>G
XM_011545851.1:c.149C>G	XP_011544153.1:p.Ala50Gly
XR_950796.1:n.239C>G
XM_011545850.2:c.-67C>G	XP_011544152.1:n.-67C>G
XM_011545851.2:c.149C>G	XP_011544153.1:p.Ala50Gly
XM_017023216.1:c.149C>G	XP_016878705.1:p.Ala50Gly
NM_000632.4:c.149C>G MANE Select	NP_000623.2:p.Ala50Gly
NM_001145808.2:c.149C>G	NP_001139280.1:p.Ala50Gly