Canonical Allele Identifier: CA731824182
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1411578781
gnomAD v3: 1-220837272-G-A
gnomAD v4: 1-220837272-G-A
MyVariant Identifiers: chr1:g.221010614G>A (hg19) chr1:g.220837272G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220837272G>A , CM000663.2:g.220837272G>A GRCh38
NC_000001.10:g.221010614G>A , CM000663.1:g.221010614G>A GRCh37
NC_000001.9:g.219077237G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+31998G>A ENSP00000499157.1:n.842+31998G>A
NR_046901.1:n.293-4080C>T
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