Canonical Allele Identifier: CA529064253

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs1180579999
• gnomAD v2: 1-221010034-C-G
• gnomAD v3: 1-220836692-C-G
• gnomAD v4: 1-220836692-C-G
• MyVariant Identifiers: chr1:g.221010034C>G (hg19) ; chr1:g.220836692C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836692C>G , CM000663.2:g.220836692C>G	GRCh38
NC_000001.10:g.221010034C>G , CM000663.1:g.221010034C>G	GRCh37
NC_000001.9:g.219076657C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.842+31418C>G	ENSP00000499157.1:n.842+31418C>G
NR_046901.1:n.293-3500G>C