Canonical Allele Identifier: CA470728438
Gene: STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1018175426
gnomAD v2: 10-90694774-G-A
gnomAD v3: 10-88935017-G-A
gnomAD v4: 10-88935017-G-A
MyVariant Identifiers: chr10:g.90694774G>A (hg19) chr10:g.88935017G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88935017G>A , CM000672.2:g.88935017G>A GRCh38
NC_000010.10:g.90694774G>A , CM000672.1:g.90694774G>A GRCh37
NC_000010.9:g.90684754G>A NCBI36
NG_011541.1:g.61374C>T , LRG_781:g.61374C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371927.7:c.1254+12581G>A (STAMBPL1) ENSP00000360995.3:n.1254+12581G>A
NR_125373.1:n.642G>A (ACTA2-AS1)
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