Canonical Allele Identifier: CA1222592067
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1674355188
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220878460G>T , CM000663.2:g.220878460G>T GRCh38
NC_000001.10:g.221051802G>T , CM000663.1:g.221051802G>T GRCh37
NC_000001.9:g.219118425G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.843-2734G>T ENSP00000499157.1:n.843-2734G>T
NR_046901.1:n.292+1389C>A
XM_011510307.1:c.599C>A XP_011508609.1:p.Ala200Asp
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