Canonical Allele Identifier: CA280615619

Gene: ITGAM

Linked Data

• dbSNP Id: rs952487732
• gnomAD v4: 16-31322730-C-A
• MyVariant Identifiers: chr16:g.31334051C>A (hg19) ; chr16:g.31322730C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31322730C>A , CM000678.2:g.31322730C>A	GRCh38
NC_000016.9:g.31334051C>A , CM000678.1:g.31334051C>A	GRCh37
NC_000016.8:g.31241552C>A	NCBI36
NG_011719.1:g.67764C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544665.9:c.2002+1103C>A MANE Select	ENSP00000441691.3:n.2002+1103C>A
ENST00000648685.1:c.2005+1103C>A	ENSP00000496959.1:n.2005+1103C>A
ENST00000287497.12:c.2002+1103C>A	ENSP00000287497.8:n.2002+1103C>A
ENST00000544665.7:c.2005+1103C>A	ENSP00000441691.2:n.2005+1103C>A
ENST00000567031.1:c.454-1669C>A
NM_000632.3:c.2002+1103C>A	NP_000623.2:n.2002+1103C>A
NM_001145808.1:c.2005+1103C>A	NP_001139280.1:n.2005+1103C>A
XM_011545850.1:c.1819+1103C>A	XP_011544152.1:n.1819+1103C>A
XM_011545851.1:c.1841+1359C>A	XP_011544153.1:n.1841+1359C>A
XR_950796.1:n.2095+1103C>A
XM_011545850.2:c.1819+1103C>A	XP_011544152.1:n.1819+1103C>A
XM_011545851.2:c.1841+1359C>A	XP_011544153.1:n.1841+1359C>A
XM_017023216.1:c.2005+1103C>A	XP_016878705.1:n.2005+1103C>A
NM_000632.4:c.2002+1103C>A MANE Select	NP_000623.2:n.2002+1103C>A
NM_001145808.2:c.2005+1103C>A	NP_001139280.1:n.2005+1103C>A