Canonical Allele Identifier: CA2580575909
Gene: STX1B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30999862A>C , CM000678.2:g.30999862A>C GRCh38
NC_000016.9:g.31011183A>C , CM000678.1:g.31011183A>C GRCh37
NC_000016.8:g.30918684A>C NCBI36
NG_041829.1:g.15647T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000215095.11:c.280+1066T>G MANE Select ENSP00000215095.5:n.280+1066T>G
ENST00000565419.2:c.280+1066T>G ENSP00000455899.1:n.280+1066T>G
ENST00000215095.9:c.280+1066T>G ENSP00000215095.5:n.280+1066T>G
ENST00000565419.1:c.280+1066T>G ENSP00000455899.1:n.280+1066T>G
ENST00000569638.5:c.28+1066T>G ENSP00000457067.1:n.28+1066T>G
NM_052874.4:c.280+1066T>G NP_443106.1:n.280+1066T>G
XM_017022893.1:c.262+1066T>G XP_016878382.1:n.262+1066T>G
NM_052874.5:c.280+1066T>G MANE Select NP_443106.1:n.280+1066T>G
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