Canonical Allele Identifier: CA37612916

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs766728560
• gnomAD v2: 1-221010188-G-A
• gnomAD v3: 1-220836846-G-A
• gnomAD v4: 1-220836846-G-A
• MyVariant Identifiers: chr1:g.221010188G>A (hg19) ; chr1:g.220836846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836846G>A , CM000663.2:g.220836846G>A	GRCh38
NC_000001.10:g.221010188G>A , CM000663.1:g.221010188G>A	GRCh37
NC_000001.9:g.219076811G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.842+31572G>A	ENSP00000499157.1:n.842+31572G>A
NR_046901.1:n.293-3654C>T