Canonical Allele Identifier: CA1926597253
Gene: STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1845703120
gnomAD v4: 10-88934868-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88934868A>C , CM000672.2:g.88934868A>C GRCh38
NC_000010.10:g.90694625A>C , CM000672.1:g.90694625A>C GRCh37
NC_000010.9:g.90684605A>C NCBI36
NG_011541.1:g.61523T>G , LRG_781:g.61523T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371927.7:c.1254+12432A>C (STAMBPL1) ENSP00000360995.3:n.1254+12432A>C
NR_125373.1:n.523-30A>C (ACTA2-AS1)
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