Canonical Allele Identifier: CA13271798
Gene: STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1278133
ClinVar RCV Id: RCV001694874
dbSNP Id: rs7908852
gnomAD v2: 10-90694793-G-T
gnomAD v3: 10-88935036-G-T
gnomAD v4: 10-88935036-G-T
MyVariant Identifiers: chr10:g.90694793G>T (hg19) chr10:g.88935036G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88935036G>T , CM000672.2:g.88935036G>T GRCh38
NC_000010.10:g.90694793G>T , CM000672.1:g.90694793G>T GRCh37
NC_000010.9:g.90684773G>T NCBI36
NG_011541.1:g.61355C>A , LRG_781:g.61355C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371927.7:c.1254+12600G>T (STAMBPL1) ENSP00000360995.3:n.1254+12600G>T
NR_125373.1:n.661G>T (ACTA2-AS1)
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