Canonical Allele Identifier: CA37613057
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs555390955
gnomAD v2: 1-221010340-A-T
gnomAD v3: 1-220836998-A-T
gnomAD v4: 1-220836998-A-T
MyVariant Identifiers: chr1:g.221010340A>T (hg19) chr1:g.220836998A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220836998A>T , CM000663.2:g.220836998A>T GRCh38
NC_000001.10:g.221010340A>T , CM000663.1:g.221010340A>T GRCh37
NC_000001.9:g.219076963A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+31724A>T ENSP00000499157.1:n.842+31724A>T
NR_046901.1:n.293-3806T>A
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