Canonical Allele Identifier: CA731824146
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1242740512
gnomAD v3: 1-220837213-A-C
gnomAD v4: 1-220837213-A-C
MyVariant Identifiers: chr1:g.221010555A>C (hg19) chr1:g.220837213A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220837213A>C , CM000663.2:g.220837213A>C GRCh38
NC_000001.10:g.221010555A>C , CM000663.1:g.221010555A>C GRCh37
NC_000001.9:g.219077178A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+31939A>C ENSP00000499157.1:n.842+31939A>C
NR_046901.1:n.293-4021T>G
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