Canonical Allele Identifier: CA559311166
Gene: ITGA1 HGNC NCBI

Linked Data

dbSNP Id: rs1229916646
gnomAD v2: 5-52195077-T-C
MyVariant Identifiers: chr5:g.52195077T>C (hg19) chr5:g.52899247T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.52899247T>C , CM000667.2:g.52899247T>C GRCh38
NC_000005.9:g.52195077T>C , CM000667.1:g.52195077T>C GRCh37
NC_000005.8:g.52230834T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000282588.7:c.1309+864T>C MANE Select ENSP00000282588.5:n.1309+864T>C
ENST00000650673.1:c.*471+864T>C ENSP00000498529.1:n.*471+864T>C
ENST00000282588.6:c.1309+864T>C ENSP00000282588.5:n.1309+864T>C
NM_181501.1:c.1309+864T>C NP_852478.1:n.1309+864T>C
NM_181501.2:c.1309+864T>C MANE Select NP_852478.1:n.1309+864T>C
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