Canonical Allele Identifier: CA559311204
Gene: ITGA1 HGNC NCBI

Linked Data

dbSNP Id: rs1297723059
gnomAD v2: 5-52195082-C-T
gnomAD v3: 5-52899252-C-T
gnomAD v4: 5-52899252-C-T
MyVariant Identifiers: chr5:g.52195082C>T (hg19) chr5:g.52899252C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.52899252C>T , CM000667.2:g.52899252C>T GRCh38
NC_000005.9:g.52195082C>T , CM000667.1:g.52195082C>T GRCh37
NC_000005.8:g.52230839C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000282588.7:c.1309+869C>T MANE Select ENSP00000282588.5:n.1309+869C>T
ENST00000650673.1:c.*471+869C>T ENSP00000498529.1:n.*471+869C>T
ENST00000282588.6:c.1309+869C>T ENSP00000282588.5:n.1309+869C>T
NM_181501.1:c.1309+869C>T NP_852478.1:n.1309+869C>T
NM_181501.2:c.1309+869C>T MANE Select NP_852478.1:n.1309+869C>T
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