Canonical Allele Identifier: CA731823986

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs1487693993
• gnomAD v3: 1-220836774-T-C
• gnomAD v4: 1-220836774-T-C
• MyVariant Identifiers: chr1:g.221010116T>C (hg19) ; chr1:g.220836774T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836774T>C , CM000663.2:g.220836774T>C	GRCh38
NC_000001.10:g.221010116T>C , CM000663.1:g.221010116T>C	GRCh37
NC_000001.9:g.219076739T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.842+31500T>C	ENSP00000499157.1:n.842+31500T>C
NR_046901.1:n.293-3582A>G