Canonical Allele Identifier: CA37613264

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs572212340
• gnomAD v3: 1-220837181-C-T
• gnomAD v4: 1-220837181-C-T
• MyVariant Identifiers: chr1:g.221010523C>T (hg19) ; chr1:g.220837181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220837181C>T , CM000663.2:g.220837181C>T	GRCh38
NC_000001.10:g.221010523C>T , CM000663.1:g.221010523C>T	GRCh37
NC_000001.9:g.219077146C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.842+31907C>T	ENSP00000499157.1:n.842+31907C>T
NR_046901.1:n.293-3989G>A