Canonical Allele Identifier: CA898344230

Gene: ITGB5

Linked Data

• dbSNP Id: rs948053447
• gnomAD v3: 3-124886025-C-G
• gnomAD v4: 3-124886025-C-G
• MyVariant Identifiers: chr3:g.124604872C>G (hg19) ; chr3:g.124886025C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124886025C>G , CM000665.2:g.124886025C>G	GRCh38
NC_000003.11:g.124604872C>G , CM000665.1:g.124604872C>G	GRCh37
NC_000003.10:g.126087562C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296181.9:c.70+906G>C MANE Select	ENSP00000296181.4:n.70+906G>C
ENST00000296181.8:c.70+906G>C	ENSP00000296181.4:n.70+906G>C
ENST00000465464.5:c.-255+1575G>C	ENSP00000418079.2:n.-255+1575G>C
ENST00000483168.5:c.-255+1575G>C	ENSP00000419198.2:n.-255+1575G>C
ENST00000608657.5:c.-254-12494G>C	ENSP00000477230.1:n.-254-12494G>C
NM_002213.4:c.70+906G>C	NP_002204.2:n.70+906G>C
XM_005247436.2:c.70+906G>C	XP_005247493.1:n.70+906G>C
XM_006713630.2:c.70+906G>C	XP_006713693.1:n.70+906G>C
NM_001354764.1:c.-254-12494G>C	NP_001341693.1:n.-254-12494G>C
NM_001354765.1:c.-255+1575G>C	NP_001341694.1:n.-255+1575G>C
NM_001354766.1:c.-254-12494G>C	NP_001341695.1:n.-254-12494G>C
XM_005247436.3:c.70+906G>C	XP_005247493.1:n.70+906G>C
XM_006713630.3:c.70+906G>C	XP_006713693.1:n.70+906G>C
XM_017006354.2:c.70+906G>C	XP_016861843.1:n.70+906G>C
XM_017006355.1:c.-255+1575G>C	XP_016861844.1:n.-255+1575G>C
NM_002213.5:c.70+906G>C MANE Select	NP_002204.2:n.70+906G>C
NM_001354764.2:c.-254-12494G>C	NP_001341693.1:n.-254-12494G>C
NM_001354766.2:c.-254-12494G>C	NP_001341695.1:n.-254-12494G>C