Canonical Allele Identifier: CA8025158

Gene: ITGAM

Linked Data

• ClinVar Variation Id: 1667111
• ClinVar RCV Id: RCV002195698
• dbSNP Id: rs760759749
• ExAC: 16:31276838 G / C
• gnomAD v2: 16-31276838-G-C
• gnomAD v4: 16-31265517-G-C
• MyVariant Identifiers: chr16:g.31276838G>C (hg19) ; chr16:g.31265517G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31265517G>C , CM000678.2:g.31265517G>C	GRCh38
NC_000016.9:g.31276838G>C , CM000678.1:g.31276838G>C	GRCh37
NC_000016.8:g.31184339G>C	NCBI36
NG_011719.1:g.10551G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544665.9:c.238+19G>C MANE Select	ENSP00000441691.3:n.238+19G>C
ENST00000648685.1:c.238+19G>C	ENSP00000496959.1:n.238+19G>C
ENST00000287497.12:c.238+19G>C	ENSP00000287497.8:n.238+19G>C
ENST00000544665.7:c.238+19G>C	ENSP00000441691.2:n.238+19G>C
NM_000632.3:c.238+19G>C	NP_000623.2:n.238+19G>C
NM_001145808.1:c.238+19G>C	NP_001139280.1:n.238+19G>C
XM_006721045.1:c.238+19G>C	XP_006721108.1:n.238+19G>C
XM_011545850.1:c.23+19G>C	XP_011544152.1:n.23+19G>C
XM_011545851.1:c.238+19G>C	XP_011544153.1:n.238+19G>C
XR_950796.1:n.328+19G>C
XM_011545850.2:c.23+19G>C	XP_011544152.1:n.23+19G>C
XM_011545851.2:c.238+19G>C	XP_011544153.1:n.238+19G>C
XM_017023216.1:c.238+19G>C	XP_016878705.1:n.238+19G>C
NM_000632.4:c.238+19G>C MANE Select	NP_000623.2:n.238+19G>C
NM_001145808.2:c.238+19G>C	NP_001139280.1:n.238+19G>C