Canonical Allele Identifier: CA395646847
Gene: STX1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993193G>T , CM000678.2:g.30993193G>T GRCh38
NC_000016.9:g.31004514G>T , CM000678.1:g.31004514G>T GRCh37
NC_000016.8:g.30912015G>T NCBI36
NG_041829.1:g.22316C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.723C>A MANE Select ENSP00000215095.5:p.Asp241Glu
ENST00000565419.2:c.723C>A ENSP00000455899.1:p.Asp241Glu
ENST00000215095.9:c.723C>A ENSP00000215095.5:p.Asp241Glu
ENST00000565419.1:c.723C>A ENSP00000455899.1:p.Asp241Glu
ENST00000569638.5:c.471C>A ENSP00000457067.1:p.Asp157Glu
NM_052874.4:c.723C>A NP_443106.1:p.Asp241Glu
XM_017022893.1:c.705C>A XP_016878382.1:p.Asp235Glu
NM_052874.5:c.723C>A MANE Select NP_443106.1:p.Asp241Glu