Canonical Allele Identifier: CA37613361
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs888181133
gnomAD v3: 1-220837284-C-T
gnomAD v4: 1-220837284-C-T
MyVariant Identifiers: chr1:g.221010626C>T (hg19) chr1:g.220837284C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220837284C>T , CM000663.2:g.220837284C>T GRCh38
NC_000001.10:g.221010626C>T , CM000663.1:g.221010626C>T GRCh37
NC_000001.9:g.219077249C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+32010C>T ENSP00000499157.1:n.842+32010C>T
NR_046901.1:n.293-4092G>A
Search 100 bp 5'
Search 100 bp 3'