Canonical Allele Identifier: CA38028701

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs996446390
• gnomAD v3: 1-220878499-G-C
• gnomAD v4: 1-220878499-G-C
• MyVariant Identifiers: chr1:g.221051841G>C (hg19) ; chr1:g.220878499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220878499G>C , CM000663.2:g.220878499G>C	GRCh38
NC_000001.10:g.221051841G>C , CM000663.1:g.221051841G>C	GRCh37
NC_000001.9:g.219118464G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.843-2695G>C	ENSP00000499157.1:n.843-2695G>C
NR_046901.1:n.292+1350C>G
XM_011510307.1:c.560C>G	XP_011508609.1:p.Ala187Gly