Canonical Allele Identifier: CA37612764

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs1026711095
• gnomAD v2: 1-221010018-C-T
• gnomAD v3: 1-220836676-C-T
• gnomAD v4: 1-220836676-C-T
• MyVariant Identifiers: chr1:g.221010018C>T (hg19) ; chr1:g.220836676C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836676C>T , CM000663.2:g.220836676C>T	GRCh38
NC_000001.10:g.221010018C>T , CM000663.1:g.221010018C>T	GRCh37
NC_000001.9:g.219076641C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.842+31402C>T	ENSP00000499157.1:n.842+31402C>T
NR_046901.1:n.293-3484G>A