Canonical Allele Identifier: CA38028690

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs1057114666
• gnomAD v3: 1-220878455-A-G
• gnomAD v4: 1-220878455-A-G
• MyVariant Identifiers: chr1:g.221051797A>G (hg19) ; chr1:g.220878455A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220878455A>G , CM000663.2:g.220878455A>G	GRCh38
NC_000001.10:g.221051797A>G , CM000663.1:g.221051797A>G	GRCh37
NC_000001.9:g.219118420A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.843-2739A>G	ENSP00000499157.1:n.843-2739A>G
NR_046901.1:n.292+1394T>C
XM_011510307.1:c.604T>C	XP_011508609.1:p.Leu202=