Canonical Allele Identifier: CA37613038

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs529146646
• gnomAD v3: 1-220836948-G-C
• gnomAD v4: 1-220836948-G-C
• MyVariant Identifiers: chr1:g.221010290G>C (hg19) ; chr1:g.220836948G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836948G>C , CM000663.2:g.220836948G>C	GRCh38
NC_000001.10:g.221010290G>C , CM000663.1:g.221010290G>C	GRCh37
NC_000001.9:g.219076913G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.842+31674G>C	ENSP00000499157.1:n.842+31674G>C
NR_046901.1:n.293-3756C>G