Canonical Allele Identifier: CA1012539638
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1673648760
gnomAD v3: 1-220837247-C-G
gnomAD v4: 1-220837247-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220837247C>G , CM000663.2:g.220837247C>G GRCh38
NC_000001.10:g.221010589C>G , CM000663.1:g.221010589C>G GRCh37
NC_000001.9:g.219077212C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+31973C>G ENSP00000499157.1:n.842+31973C>G
NR_046901.1:n.293-4055G>C
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