Canonical Allele Identifier: CA211318079
Gene: STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs113704967
gnomAD v2: 10-90694616-A-G
gnomAD v3: 10-88934859-A-G
gnomAD v4: 10-88934859-A-G
MyVariant Identifiers: chr10:g.90694616A>G (hg19) chr10:g.88934859A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88934859A>G , CM000672.2:g.88934859A>G GRCh38
NC_000010.10:g.90694616A>G , CM000672.1:g.90694616A>G GRCh37
NC_000010.9:g.90684596A>G NCBI36
NG_011541.1:g.61532T>C , LRG_781:g.61532T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371927.7:c.1254+12423A>G (STAMBPL1) ENSP00000360995.3:n.1254+12423A>G
NR_125373.1:n.523-39A>G (ACTA2-AS1)
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