Canonical Allele Identifier: CA529297770
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1170168886
gnomAD v2: 1-221051806-A-G
gnomAD v3: 1-220878464-A-G
gnomAD v4: 1-220878464-A-G
MyVariant Identifiers: chr1:g.221051806A>G (hg19) chr1:g.220878464A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220878464A>G , CM000663.2:g.220878464A>G GRCh38
NC_000001.10:g.221051806A>G , CM000663.1:g.221051806A>G GRCh37
NC_000001.9:g.219118429A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.843-2730A>G ENSP00000499157.1:n.843-2730A>G
NR_046901.1:n.292+1385T>C
XM_011510307.1:c.595T>C XP_011508609.1:p.Trp199Arg
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