Canonical Allele Identifier: CA8025137

Gene: ITGAM

Linked Data

• ClinVar Variation Id: 2044104
• ClinVar RCV Id: RCV002903433
• dbSNP Id: rs552204837
• ExAC: 16:31276742 T / C
• gnomAD v2: 16-31276742-T-C
• gnomAD v3: 16-31265421-T-C
• gnomAD v4: 16-31265421-T-C
• MyVariant Identifiers: chr16:g.31276742T>C (hg19) ; chr16:g.31265421T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31265421T>C , CM000678.2:g.31265421T>C	GRCh38
NC_000016.9:g.31276742T>C , CM000678.1:g.31276742T>C	GRCh37
NC_000016.8:g.31184243T>C	NCBI36
NG_011719.1:g.10455T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544665.9:c.161T>C MANE Select	ENSP00000441691.3:p.Ile54Thr
ENST00000648685.1:c.161T>C	ENSP00000496959.1:p.Ile54Thr
ENST00000287497.12:c.161T>C	ENSP00000287497.8:p.Ile54Thr
ENST00000544665.7:c.161T>C	ENSP00000441691.2:p.Ile54Thr
NM_000632.3:c.161T>C	NP_000623.2:p.Ile54Thr
NM_001145808.1:c.161T>C	NP_001139280.1:p.Ile54Thr
XM_006721045.1:c.161T>C	XP_006721108.1:p.Ile54Thr
XM_011545850.1:c.-55T>C	XP_011544152.1:n.-55T>C
XM_011545851.1:c.161T>C	XP_011544153.1:p.Ile54Thr
XR_950796.1:n.251T>C
XM_011545850.2:c.-55T>C	XP_011544152.1:n.-55T>C
XM_011545851.2:c.161T>C	XP_011544153.1:p.Ile54Thr
XM_017023216.1:c.161T>C	XP_016878705.1:p.Ile54Thr
NM_000632.4:c.161T>C MANE Select	NP_000623.2:p.Ile54Thr
NM_001145808.2:c.161T>C	NP_001139280.1:p.Ile54Thr