Canonical Allele Identifier: CA1076068220
Gene: ITGA1 HGNC NCBI

Linked Data

dbSNP Id: rs1750277948
gnomAD v3: 5-52899228-T-C
gnomAD v4: 5-52899228-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.52899228T>C , CM000667.2:g.52899228T>C GRCh38
NC_000005.9:g.52195058T>C , CM000667.1:g.52195058T>C GRCh37
NC_000005.8:g.52230815T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000282588.7:c.1309+845T>C MANE Select ENSP00000282588.5:n.1309+845T>C
ENST00000650673.1:c.*471+845T>C ENSP00000498529.1:n.*471+845T>C
ENST00000282588.6:c.1309+845T>C ENSP00000282588.5:n.1309+845T>C
NM_181501.1:c.1309+845T>C NP_852478.1:n.1309+845T>C
NM_181501.2:c.1309+845T>C MANE Select NP_852478.1:n.1309+845T>C