Canonical Allele Identifier: CA2216976041

Gene: ITGAM

Linked Data

• dbSNP Id: rs2080464725
• gnomAD v3: 16-31322898-C-T
• gnomAD v4: 16-31322898-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31322898C>T , CM000678.2:g.31322898C>T	GRCh38
NC_000016.9:g.31334219C>T , CM000678.1:g.31334219C>T	GRCh37
NC_000016.8:g.31241720C>T	NCBI36
NG_011719.1:g.67932C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544665.9:c.2002+1271C>T MANE Select	ENSP00000441691.3:n.2002+1271C>T
ENST00000648685.1:c.2005+1271C>T	ENSP00000496959.1:n.2005+1271C>T
ENST00000287497.12:c.2002+1271C>T	ENSP00000287497.8:n.2002+1271C>T
ENST00000544665.7:c.2005+1271C>T	ENSP00000441691.2:n.2005+1271C>T
ENST00000567031.1:c.454-1501C>T
NM_000632.3:c.2002+1271C>T	NP_000623.2:n.2002+1271C>T
NM_001145808.1:c.2005+1271C>T	NP_001139280.1:n.2005+1271C>T
XM_011545850.1:c.1819+1271C>T	XP_011544152.1:n.1819+1271C>T
XM_011545851.1:c.1842-1501C>T	XP_011544153.1:n.1842-1501C>T
XR_950796.1:n.2095+1271C>T
XM_011545850.2:c.1819+1271C>T	XP_011544152.1:n.1819+1271C>T
XM_011545851.2:c.1842-1501C>T	XP_011544153.1:n.1842-1501C>T
XM_017023216.1:c.2005+1271C>T	XP_016878705.1:n.2005+1271C>T
NM_000632.4:c.2002+1271C>T MANE Select	NP_000623.2:n.2002+1271C>T
NM_001145808.2:c.2005+1271C>T	NP_001139280.1:n.2005+1271C>T