Canonical Allele Identifier: CA2610069642
Gene: STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

gnomAD v4: 10-88934864-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88934864C>A , CM000672.2:g.88934864C>A GRCh38
NC_000010.10:g.90694621C>A , CM000672.1:g.90694621C>A GRCh37
NC_000010.9:g.90684601C>A NCBI36
NG_011541.1:g.61527G>T , LRG_781:g.61527G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371927.7:c.1254+12428C>A (STAMBPL1) ENSP00000360995.3:n.1254+12428C>A
NR_125373.1:n.523-34C>A (ACTA2-AS1)
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