Canonical Allele Identifier: CA37612921

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs1052306295
• gnomAD v3: 1-220836849-G-A
• gnomAD v4: 1-220836849-G-A
• MyVariant Identifiers: chr1:g.221010191G>A (hg19) ; chr1:g.220836849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836849G>A , CM000663.2:g.220836849G>A	GRCh38
NC_000001.10:g.221010191G>A , CM000663.1:g.221010191G>A	GRCh37
NC_000001.9:g.219076814G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.842+31575G>A	ENSP00000499157.1:n.842+31575G>A
NR_046901.1:n.293-3657C>T