Canonical Allele Identifier: CA15435674
Gene: BLOC1S5 HGNC NCBI
EEF1E1-BLOC1S5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI
COSMIC:
COSN19711899 (not active)
MyVariant.info:
GRCh38 chr6:g.8054489T>C
GRCh37 chr6:g.8054722T>C
gnomAD v2:
6:8054722 T / C
gnomAD v3:
6:8054489 T / C
gnomAD v4:
chr6-8054489-T-C
Joint Max Group AF 0.53674698 (EAS)
Genomes Max Group AF 0.53623622 (EAS)
Exomes Max Group AF 0.52544066 (EAS)
dbSNP:
2743992
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8054489T>C , CM000668.2:g.8054489T>C GRCh38
NC_000006.11:g.8054722T>C , CM000668.1:g.8054722T>C GRCh37
NC_000006.10:g.7999721T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000397457.7:c.195+8045A>G (BLOC1S5) MANE Select ENSP00000380598.2:n.195+8045A>G
ENST00000543936.7:c.195+8045A>G (BLOC1S5) ENSP00000445215.2:n.195+8045A>G
ENST00000244777.6:c.195+8045A>G (BLOC1S5) ENSP00000244777.2:n.195+8045A>G
ENST00000397456.2:c.*11+8045A>G (EEF1E1-BLOC1S5) ENSP00000380597.2:n.*11+8045A>G
ENST00000397457.6:c.195+8045A>G (BLOC1S5) ENSP00000380598.2:n.195+8045A>G
ENST00000439343.2:c.183+8045A>G (BLOC1S5-TXNDC5) ENSP00000454697.1:n.183+8045A>G
ENST00000543936.6:c.195+8045A>G ENSP00000445215.2:n.195+8045A>G
ENST00000627748.2:c.196-117A>G (BLOC1S5) ENSP00000486019.1:n.196-117A>G
NM_001199322.1:c.-100-117A>G (BLOC1S5) NP_001186251.1:n.-100-117A>G
NM_001199323.1:c.195+8045A>G (BLOC1S5) NP_001186252.1:n.195+8045A>G
NM_201280.2:c.195+8045A>G (BLOC1S5) NP_958437.1:n.195+8045A>G
NR_037616.1:n.233+8045A>G (BLOC1S5-TXNDC5)
NR_037618.1:n.541+8045A>G (EEF1E1-BLOC1S5)
NM_201280.3:c.195+8045A>G (BLOC1S5) MANE Select NP_958437.1:n.195+8045A>G
Search 100 bp 5'
Search 100 bp 3'