Canonical Allele Identifier: CA211318118
Gene: STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs535799514
gnomAD v2: 10-90694754-G-A
gnomAD v3: 10-88934997-G-A
gnomAD v4: 10-88934997-G-A
MyVariant Identifiers: chr10:g.90694754G>A (hg19) chr10:g.88934997G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88934997G>A , CM000672.2:g.88934997G>A GRCh38
NC_000010.10:g.90694754G>A , CM000672.1:g.90694754G>A GRCh37
NC_000010.9:g.90684734G>A NCBI36
NG_011541.1:g.61394C>T , LRG_781:g.61394C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371927.7:c.1254+12561G>A (STAMBPL1) ENSP00000360995.3:n.1254+12561G>A
NR_125373.1:n.622G>A (ACTA2-AS1)
Search 100 bp 5'
Search 100 bp 3'