Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA1099320644

Gene: STEAP1B HGNC NCBI
IL6 HGNC NCBI
IL6-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1784017795

gnomAD v3: 7-22727001-A-C

gnomAD v4: 7-22727001-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.22727001A>C , CM000669.2:g.22727001A>C	GRCh38
NC_000007.13:g.22766620A>C , CM000669.1:g.22766620A>C	GRCh37
NC_000007.12:g.22733145A>C	NCBI36
NG_011640.1:g.4855A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650428.1:n.46+567T>G (STEAP1B)
ENST00000404625.5:c.-84-178A>C (IL6)	ENSP00000385675.1:n.-84-178A>C
NR_131935.1:n.54-296T>G (IL6-AS1)
XM_011515390.1:c.-84-178A>C (IL6)	XP_011513692.1:n.-84-178A>C
XM_011515390.2:c.-84-178A>C (IL6)	XP_011513692.1:n.-84-178A>C

Search 100 bp 5'

Search 100 bp 3'