Canonical Allele Identifier: CA976334014
Gene: STX1B HGNC NCBI

Linked Data

dbSNP Id: rs2056614440
gnomAD v3: 16-30999779-C-T
gnomAD v4: 16-30999779-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30999779C>T , CM000678.2:g.30999779C>T GRCh38
NC_000016.9:g.31011100C>T , CM000678.1:g.31011100C>T GRCh37
NC_000016.8:g.30918601C>T NCBI36
NG_041829.1:g.15730G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000215095.11:c.280+1149G>A MANE Select ENSP00000215095.5:n.280+1149G>A
ENST00000565419.2:c.280+1149G>A ENSP00000455899.1:n.280+1149G>A
ENST00000215095.9:c.280+1149G>A ENSP00000215095.5:n.280+1149G>A
ENST00000565419.1:c.280+1149G>A ENSP00000455899.1:n.280+1149G>A
ENST00000569638.5:c.28+1149G>A ENSP00000457067.1:n.28+1149G>A
NM_052874.4:c.280+1149G>A NP_443106.1:n.280+1149G>A
XM_017022893.1:c.262+1149G>A XP_016878382.1:n.262+1149G>A
NM_052874.5:c.280+1149G>A MANE Select NP_443106.1:n.280+1149G>A
Search 100 bp 5'
Search 100 bp 3'