Canonical Allele Identifier: CA976334028
Gene: STX1B HGNC NCBI

Linked Data

dbSNP Id: rs2056614729
gnomAD v3: 16-30999828-A-G
gnomAD v4: 16-30999828-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30999828A>G , CM000678.2:g.30999828A>G GRCh38
NC_000016.9:g.31011149A>G , CM000678.1:g.31011149A>G GRCh37
NC_000016.8:g.30918650A>G NCBI36
NG_041829.1:g.15681T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000215095.11:c.280+1100T>C MANE Select ENSP00000215095.5:n.280+1100T>C
ENST00000565419.2:c.280+1100T>C ENSP00000455899.1:n.280+1100T>C
ENST00000215095.9:c.280+1100T>C ENSP00000215095.5:n.280+1100T>C
ENST00000565419.1:c.280+1100T>C ENSP00000455899.1:n.280+1100T>C
ENST00000569638.5:c.28+1100T>C ENSP00000457067.1:n.28+1100T>C
NM_052874.4:c.280+1100T>C NP_443106.1:n.280+1100T>C
XM_017022893.1:c.262+1100T>C XP_016878382.1:n.262+1100T>C
NM_052874.5:c.280+1100T>C MANE Select NP_443106.1:n.280+1100T>C
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