Canonical Allele Identifier: CA529064258
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1289179186
gnomAD v2: 1-221010184-C-T
gnomAD v3: 1-220836842-C-T
gnomAD v4: 1-220836842-C-T
MyVariant Identifiers: chr1:g.221010184C>T (hg19) chr1:g.220836842C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220836842C>T , CM000663.2:g.220836842C>T GRCh38
NC_000001.10:g.221010184C>T , CM000663.1:g.221010184C>T GRCh37
NC_000001.9:g.219076807C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+31568C>T ENSP00000499157.1:n.842+31568C>T
NR_046901.1:n.293-3650G>A
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