Canonical Allele Identifier: CA8025142

Gene: ITGAM

Linked Data

• ClinVar Variation Id: 735533
• ClinVar RCV Id: RCV000911090
• dbSNP Id: rs373413258
• ExAC: 16:31276773 C / T
• gnomAD v2: 16-31276773-C-T
• gnomAD v3: 16-31265452-C-T
• gnomAD v4: 16-31265452-C-T
• MyVariant Identifiers: chr16:g.31276773C>T (hg19) ; chr16:g.31265452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31265452C>T , CM000678.2:g.31265452C>T	GRCh38
NC_000016.9:g.31276773C>T , CM000678.1:g.31276773C>T	GRCh37
NC_000016.8:g.31184274C>T	NCBI36
NG_011719.1:g.10486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544665.9:c.192C>T MANE Select	ENSP00000441691.3:p.Tyr64=
ENST00000648685.1:c.192C>T	ENSP00000496959.1:p.Tyr64=
ENST00000287497.12:c.192C>T	ENSP00000287497.8:p.Tyr64=
ENST00000544665.7:c.192C>T	ENSP00000441691.2:p.Tyr64=
NM_000632.3:c.192C>T	NP_000623.2:p.Tyr64=
NM_001145808.1:c.192C>T	NP_001139280.1:p.Tyr64=
XM_006721045.1:c.192C>T	XP_006721108.1:p.Tyr64=
XM_011545850.1:c.-24C>T	XP_011544152.1:n.-24C>T
XM_011545851.1:c.192C>T	XP_011544153.1:p.Tyr64=
XR_950796.1:n.282C>T
XM_011545850.2:c.-24C>T	XP_011544152.1:n.-24C>T
XM_011545851.2:c.192C>T	XP_011544153.1:p.Tyr64=
XM_017023216.1:c.192C>T	XP_016878705.1:p.Tyr64=
NM_000632.4:c.192C>T MANE Select	NP_000623.2:p.Tyr64=
NM_001145808.2:c.192C>T	NP_001139280.1:p.Tyr64=