Canonical Allele Identifier: CA37612911

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs1043132963
• gnomAD v2: 1-221010187-C-T
• gnomAD v3: 1-220836845-C-T
• gnomAD v4: 1-220836845-C-T
• MyVariant Identifiers: chr1:g.221010187C>T (hg19) ; chr1:g.220836845C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836845C>T , CM000663.2:g.220836845C>T	GRCh38
NC_000001.10:g.221010187C>T , CM000663.1:g.221010187C>T	GRCh37
NC_000001.9:g.219076810C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.842+31571C>T	ENSP00000499157.1:n.842+31571C>T
NR_046901.1:n.293-3653G>A