Canonical Allele Identifier: CA731844595
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1278289549
gnomAD v3: 1-220878490-G-A
gnomAD v4: 1-220878490-G-A
MyVariant Identifiers: chr1:g.221051832G>A (hg19) chr1:g.220878490G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220878490G>A , CM000663.2:g.220878490G>A GRCh38
NC_000001.10:g.221051832G>A , CM000663.1:g.221051832G>A GRCh37
NC_000001.9:g.219118455G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651706.1:c.843-2704G>A ENSP00000499157.1:n.843-2704G>A
NR_046901.1:n.292+1359C>T
XM_011510307.1:c.569C>T XP_011508609.1:p.Ser190Phe
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