Canonical Allele Identifier: CA494707147

Gene: ITGAM

Linked Data

• ClinVar Variation Id: 1900254
• ClinVar RCV Id: RCV002576425
• dbSNP Id: rs1257927002
• gnomAD v2: 16-31276734-C-G
• gnomAD v3: 16-31265413-C-G
• gnomAD v4: 16-31265413-C-G
• MyVariant Identifiers: chr16:g.31276734C>G (hg19) ; chr16:g.31265413C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31265413C>G , CM000678.2:g.31265413C>G	GRCh38
NC_000016.9:g.31276734C>G , CM000678.1:g.31276734C>G	GRCh37
NC_000016.8:g.31184235C>G	NCBI36
NG_011719.1:g.10447C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000544665.9:c.153C>G MANE Select	ENSP00000441691.3:p.Pro51=
ENST00000648685.1:c.153C>G	ENSP00000496959.1:p.Pro51=
ENST00000287497.12:c.153C>G	ENSP00000287497.8:p.Pro51=
ENST00000544665.7:c.153C>G	ENSP00000441691.2:p.Pro51=
NM_000632.3:c.153C>G	NP_000623.2:p.Pro51=
NM_001145808.1:c.153C>G	NP_001139280.1:p.Pro51=
XM_006721045.1:c.153C>G	XP_006721108.1:p.Pro51=
XM_011545850.1:c.-63C>G	XP_011544152.1:n.-63C>G
XM_011545851.1:c.153C>G	XP_011544153.1:p.Pro51=
XR_950796.1:n.243C>G
XM_011545850.2:c.-63C>G	XP_011544152.1:n.-63C>G
XM_011545851.2:c.153C>G	XP_011544153.1:p.Pro51=
XM_017023216.1:c.153C>G	XP_016878705.1:p.Pro51=
NM_000632.4:c.153C>G MANE Select	NP_000623.2:p.Pro51=
NM_001145808.2:c.153C>G	NP_001139280.1:p.Pro51=