Canonical Allele Identifier: CA731824169
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1416456402
gnomAD v3: 1-220837271-G-T
gnomAD v4: 1-220837271-G-T
MyVariant Identifiers: chr1:g.221010613G>T (hg19) chr1:g.220837271G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220837271G>T , CM000663.2:g.220837271G>T GRCh38
NC_000001.10:g.221010613G>T , CM000663.1:g.221010613G>T GRCh37
NC_000001.9:g.219077236G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+31997G>T ENSP00000499157.1:n.842+31997G>T
NR_046901.1:n.293-4079C>A
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