Canonical Allele Identifier: CA118851911
Gene: ITGA1 HGNC NCBI

Linked Data

dbSNP Id: rs938809562
gnomAD v2: 5-52194957-G-T
gnomAD v3: 5-52899127-G-T
gnomAD v4: 5-52899127-G-T
MyVariant Identifiers: chr5:g.52194957G>T (hg19) chr5:g.52899127G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.52899127G>T , CM000667.2:g.52899127G>T GRCh38
NC_000005.9:g.52194957G>T , CM000667.1:g.52194957G>T GRCh37
NC_000005.8:g.52230714G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000282588.7:c.1309+744G>T MANE Select ENSP00000282588.5:n.1309+744G>T
ENST00000650673.1:c.*471+744G>T ENSP00000498529.1:n.*471+744G>T
ENST00000282588.6:c.1309+744G>T ENSP00000282588.5:n.1309+744G>T
NM_181501.1:c.1309+744G>T NP_852478.1:n.1309+744G>T
NM_181501.2:c.1309+744G>T MANE Select NP_852478.1:n.1309+744G>T
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