Allele Registry

Canonical Allele Identifier: CA16281047

Gene: HBS1L HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN9968082 (not active)

COSN14798273 (not active)

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr6:g.135097880T>C

GRCh37 chr6:g.135419018T>C

Linked Data - Sequence & Population

gnomAD v2:

6:135419018 T / C

gnomAD v3:

6:135097880 T / C

gnomAD v4:

chr6-135097880-T-C

Joint Max Group AF 0.25628466 (NFE)

Genomes Max Group AF 0.25628466 (NFE)

Linked Data - NCBI & NCI

dbSNP:

9399137

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135097880T>C , CM000668.2:g.135097880T>C	GRCh38
NC_000006.11:g.135419018T>C , CM000668.1:g.135419018T>C	GRCh37
NC_000006.10:g.135460711T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529882.5:c.88+5048A>G	ENSP00000433030.1:n.88+5048A>G

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