Canonical Allele Identifier: CA621882659

Gene: ITGAM

Linked Data

• dbSNP Id: rs1365957658
• gnomAD v2: 16-31334250-G-A
• gnomAD v3: 16-31322929-G-A
• gnomAD v4: 16-31322929-G-A
• MyVariant Identifiers: chr16:g.31334250G>A (hg19) ; chr16:g.31322929G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31322929G>A , CM000678.2:g.31322929G>A	GRCh38
NC_000016.9:g.31334250G>A , CM000678.1:g.31334250G>A	GRCh37
NC_000016.8:g.31241751G>A	NCBI36
NG_011719.1:g.67963G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000544665.9:c.2002+1302G>A MANE Select	ENSP00000441691.3:n.2002+1302G>A
ENST00000648685.1:c.2005+1302G>A	ENSP00000496959.1:n.2005+1302G>A
ENST00000287497.12:c.2002+1302G>A	ENSP00000287497.8:n.2002+1302G>A
ENST00000544665.7:c.2005+1302G>A	ENSP00000441691.2:n.2005+1302G>A
ENST00000567031.1:c.454-1470G>A
NM_000632.3:c.2002+1302G>A	NP_000623.2:n.2002+1302G>A
NM_001145808.1:c.2005+1302G>A	NP_001139280.1:n.2005+1302G>A
XM_011545850.1:c.1819+1302G>A	XP_011544152.1:n.1819+1302G>A
XM_011545851.1:c.1842-1470G>A	XP_011544153.1:n.1842-1470G>A
XR_950796.1:n.2095+1302G>A
XM_011545850.2:c.1819+1302G>A	XP_011544152.1:n.1819+1302G>A
XM_011545851.2:c.1842-1470G>A	XP_011544153.1:n.1842-1470G>A
XM_017023216.1:c.2005+1302G>A	XP_016878705.1:n.2005+1302G>A
NM_000632.4:c.2002+1302G>A MANE Select	NP_000623.2:n.2002+1302G>A
NM_001145808.2:c.2005+1302G>A	NP_001139280.1:n.2005+1302G>A