Canonical Allele Identifier: CA731844552

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs1260064492
• gnomAD v3: 1-220878391-C-T
• gnomAD v4: 1-220878391-C-T
• MyVariant Identifiers: chr1:g.221051733C>T (hg19) ; chr1:g.220878391C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220878391C>T , CM000663.2:g.220878391C>T	GRCh38
NC_000001.10:g.221051733C>T , CM000663.1:g.221051733C>T	GRCh37
NC_000001.9:g.219118356C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.843-2803C>T	ENSP00000499157.1:n.843-2803C>T
NR_046901.1:n.292+1458G>A
XM_011510307.1:c.668G>A	XP_011508609.1:p.Gly223Asp