Canonical Allele Identifier: CA2698211496
Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2102640012

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220878493T>C , CM000663.2:g.220878493T>C GRCh38
NC_000001.10:g.221051835T>C , CM000663.1:g.221051835T>C GRCh37
NC_000001.9:g.219118458T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.843-2701T>C ENSP00000499157.1:n.843-2701T>C
NR_046901.1:n.292+1356A>G
XM_011510307.1:c.566A>G XP_011508609.1:p.Asn189Ser