Canonical Allele Identifier: CA2610069649
Gene: STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

gnomAD v4: 10-88934875-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88934875T>C , CM000672.2:g.88934875T>C GRCh38
NC_000010.10:g.90694632T>C , CM000672.1:g.90694632T>C GRCh37
NC_000010.9:g.90684612T>C NCBI36
NG_011541.1:g.61516A>G , LRG_781:g.61516A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371927.7:c.1254+12439T>C (STAMBPL1) ENSP00000360995.3:n.1254+12439T>C
NR_125373.1:n.523-23T>C (ACTA2-AS1)
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