Canonical Allele Identifier: CA2216843723
Gene: STX1B HGNC NCBI

Linked Data

dbSNP Id: rs2056615304
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30999910G>C , CM000678.2:g.30999910G>C GRCh38
NC_000016.9:g.31011231G>C , CM000678.1:g.31011231G>C GRCh37
NC_000016.8:g.30918732G>C NCBI36
NG_041829.1:g.15599C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.280+1018C>G MANE Select ENSP00000215095.5:n.280+1018C>G
ENST00000565419.2:c.280+1018C>G ENSP00000455899.1:n.280+1018C>G
ENST00000215095.9:c.280+1018C>G ENSP00000215095.5:n.280+1018C>G
ENST00000565419.1:c.280+1018C>G ENSP00000455899.1:n.280+1018C>G
ENST00000569638.5:c.28+1018C>G ENSP00000457067.1:n.28+1018C>G
NM_052874.4:c.280+1018C>G NP_443106.1:n.280+1018C>G
XM_017022893.1:c.262+1018C>G XP_016878382.1:n.262+1018C>G
NM_052874.5:c.280+1018C>G MANE Select NP_443106.1:n.280+1018C>G
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