Canonical Allele Identifier: CA930977966
Gene: STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1845702828
gnomAD v3: 10-88934853-T-G
gnomAD v4: 10-88934853-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88934853T>G , CM000672.2:g.88934853T>G GRCh38
NC_000010.10:g.90694610T>G , CM000672.1:g.90694610T>G GRCh37
NC_000010.9:g.90684590T>G NCBI36
NG_011541.1:g.61538A>C , LRG_781:g.61538A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371927.7:c.1254+12417T>G (STAMBPL1) ENSP00000360995.3:n.1254+12417T>G
NR_125373.1:n.523-45T>G (ACTA2-AS1)
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