Canonical Allele Identifier: CA395646852
Gene: STX1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993195C>G , CM000678.2:g.30993195C>G GRCh38
NC_000016.9:g.31004516C>G , CM000678.1:g.31004516C>G GRCh37
NC_000016.8:g.30912017C>G NCBI36
NG_041829.1:g.22314G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.721G>C MANE Select ENSP00000215095.5:p.Asp241His
ENST00000565419.2:c.721G>C ENSP00000455899.1:p.Asp241His
ENST00000215095.9:c.721G>C ENSP00000215095.5:p.Asp241His
ENST00000565419.1:c.721G>C ENSP00000455899.1:p.Asp241His
ENST00000569638.5:c.469G>C ENSP00000457067.1:p.Asp157His
NM_052874.4:c.721G>C NP_443106.1:p.Asp241His
XM_017022893.1:c.703G>C XP_016878382.1:p.Asp235His
NM_052874.5:c.721G>C MANE Select NP_443106.1:p.Asp241His