Canonical Allele Identifier: CA1222592072
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1674355298

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220878465A>G , CM000663.2:g.220878465A>G GRCh38
NC_000001.10:g.221051807A>G , CM000663.1:g.221051807A>G GRCh37
NC_000001.9:g.219118430A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.843-2729A>G ENSP00000499157.1:n.843-2729A>G
NR_046901.1:n.292+1384T>C
XM_011510307.1:c.594T>C XP_011508609.1:p.Pro198=