Canonical Allele Identifier: CA38028681
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs771988426
gnomAD v2: 1-221051759-G-A
gnomAD v3: 1-220878417-G-A
gnomAD v4: 1-220878417-G-A
MyVariant Identifiers: chr1:g.221051759G>A (hg19) chr1:g.220878417G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220878417G>A , CM000663.2:g.220878417G>A GRCh38
NC_000001.10:g.221051759G>A , CM000663.1:g.221051759G>A GRCh37
NC_000001.9:g.219118382G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.843-2777G>A ENSP00000499157.1:n.843-2777G>A
NR_046901.1:n.292+1432C>T
XM_011510307.1:c.642C>T XP_011508609.1:p.Phe214=
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