Canonical Allele Identifier: CA719962742

Gene: ITGAM

Linked Data

• dbSNP Id: rs1194856738
• gnomAD v3: 16-31322920-T-A
• gnomAD v4: 16-31322920-T-A
• MyVariant Identifiers: chr16:g.31334241T>A (hg19) ; chr16:g.31322920T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31322920T>A , CM000678.2:g.31322920T>A	GRCh38
NC_000016.9:g.31334241T>A , CM000678.1:g.31334241T>A	GRCh37
NC_000016.8:g.31241742T>A	NCBI36
NG_011719.1:g.67954T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000544665.9:c.2002+1293T>A MANE Select	ENSP00000441691.3:n.2002+1293T>A
ENST00000648685.1:c.2005+1293T>A	ENSP00000496959.1:n.2005+1293T>A
ENST00000287497.12:c.2002+1293T>A	ENSP00000287497.8:n.2002+1293T>A
ENST00000544665.7:c.2005+1293T>A	ENSP00000441691.2:n.2005+1293T>A
ENST00000567031.1:c.454-1479T>A
NM_000632.3:c.2002+1293T>A	NP_000623.2:n.2002+1293T>A
NM_001145808.1:c.2005+1293T>A	NP_001139280.1:n.2005+1293T>A
XM_011545850.1:c.1819+1293T>A	XP_011544152.1:n.1819+1293T>A
XM_011545851.1:c.1842-1479T>A	XP_011544153.1:n.1842-1479T>A
XR_950796.1:n.2095+1293T>A
XM_011545850.2:c.1819+1293T>A	XP_011544152.1:n.1819+1293T>A
XM_011545851.2:c.1842-1479T>A	XP_011544153.1:n.1842-1479T>A
XM_017023216.1:c.2005+1293T>A	XP_016878705.1:n.2005+1293T>A
NM_000632.4:c.2002+1293T>A MANE Select	NP_000623.2:n.2002+1293T>A
NM_001145808.2:c.2005+1293T>A	NP_001139280.1:n.2005+1293T>A