Canonical Allele Identifier: CA37613298
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1020446102
gnomAD v3: 1-220837240-A-G
gnomAD v4: 1-220837240-A-G
MyVariant Identifiers: chr1:g.221010582A>G (hg19) chr1:g.220837240A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220837240A>G , CM000663.2:g.220837240A>G GRCh38
NC_000001.10:g.221010582A>G , CM000663.1:g.221010582A>G GRCh37
NC_000001.9:g.219077205A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+31966A>G ENSP00000499157.1:n.842+31966A>G
NR_046901.1:n.293-4048T>C
Search 100 bp 5'
Search 100 bp 3'