Canonical Allele Identifier: CA731844559

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs1301586481
• gnomAD v3: 1-220878399-T-C
• gnomAD v4: 1-220878399-T-C
• MyVariant Identifiers: chr1:g.221051741T>C (hg19) ; chr1:g.220878399T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220878399T>C , CM000663.2:g.220878399T>C	GRCh38
NC_000001.10:g.221051741T>C , CM000663.1:g.221051741T>C	GRCh37
NC_000001.9:g.219118364T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.843-2795T>C	ENSP00000499157.1:n.843-2795T>C
NR_046901.1:n.292+1450A>G
XM_011510307.1:c.660A>G	XP_011508609.1:p.Arg220=