Canonical Allele Identifier: CA529064252
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1417002112
gnomAD v2: 1-221010022-T-C
gnomAD v3: 1-220836680-T-C
gnomAD v4: 1-220836680-T-C
MyVariant Identifiers: chr1:g.221010022T>C (hg19) chr1:g.220836680T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220836680T>C , CM000663.2:g.220836680T>C GRCh38
NC_000001.10:g.221010022T>C , CM000663.1:g.221010022T>C GRCh37
NC_000001.9:g.219076645T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+31406T>C ENSP00000499157.1:n.842+31406T>C
NR_046901.1:n.293-3488A>G
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