Canonical Allele Identifier: CA529297768
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1220487597
gnomAD v2: 1-221051755-G-T
gnomAD v3: 1-220878413-G-T
gnomAD v4: 1-220878413-G-T
MyVariant Identifiers: chr1:g.221051755G>T (hg19) chr1:g.220878413G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220878413G>T , CM000663.2:g.220878413G>T GRCh38
NC_000001.10:g.221051755G>T , CM000663.1:g.221051755G>T GRCh37
NC_000001.9:g.219118378G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.843-2781G>T ENSP00000499157.1:n.843-2781G>T
NR_046901.1:n.292+1436C>A
XM_011510307.1:c.646C>A XP_011508609.1:p.Pro216Thr
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