Canonical Allele Identifier: CA37612891
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs182236540
gnomAD v2: 1-221010165-A-G
gnomAD v3: 1-220836823-A-G
gnomAD v4: 1-220836823-A-G
MyVariant Identifiers: chr1:g.221010165A>G (hg19) chr1:g.220836823A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220836823A>G , CM000663.2:g.220836823A>G GRCh38
NC_000001.10:g.221010165A>G , CM000663.1:g.221010165A>G GRCh37
NC_000001.9:g.219076788A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+31549A>G ENSP00000499157.1:n.842+31549A>G
NR_046901.1:n.293-3631T>C
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