Canonical Allele Identifier: CA37612760

Gene: HLX-AS1

Linked Data

• dbSNP Id: rs925689145
• gnomAD v2: 1-221009994-T-C
• gnomAD v3: 1-220836652-T-C
• gnomAD v4: 1-220836652-T-C
• MyVariant Identifiers: chr1:g.221009994T>C (hg19) ; chr1:g.220836652T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836652T>C , CM000663.2:g.220836652T>C	GRCh38
NC_000001.10:g.221009994T>C , CM000663.1:g.221009994T>C	GRCh37
NC_000001.9:g.219076617T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651706.1:c.842+31378T>C	ENSP00000499157.1:n.842+31378T>C
NR_046901.1:n.293-3460A>G