Canonical Allele Identifier: CA38028694

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs760568776
• gnomAD v3: 1-220878461-C-T
• gnomAD v4: 1-220878461-C-T
• MyVariant Identifiers: chr1:g.221051803C>T (hg19) ; chr1:g.220878461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220878461C>T , CM000663.2:g.220878461C>T	GRCh38
NC_000001.10:g.221051803C>T , CM000663.1:g.221051803C>T	GRCh37
NC_000001.9:g.219118426C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.843-2733C>T	ENSP00000499157.1:n.843-2733C>T
NR_046901.1:n.292+1388G>A
XM_011510307.1:c.598G>A	XP_011508609.1:p.Ala200Thr