Canonical Allele Identifier: CA395646901
Gene: STX1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993215T>A , CM000678.2:g.30993215T>A GRCh38
NC_000016.9:g.31004536T>A , CM000678.1:g.31004536T>A GRCh37
NC_000016.8:g.30912037T>A NCBI36
NG_041829.1:g.22294A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.701A>T MANE Select ENSP00000215095.5:p.Tyr234Phe
ENST00000565419.2:c.701A>T ENSP00000455899.1:p.Tyr234Phe
ENST00000215095.9:c.701A>T ENSP00000215095.5:p.Tyr234Phe
ENST00000565419.1:c.701A>T ENSP00000455899.1:p.Tyr234Phe
ENST00000569638.5:c.449A>T ENSP00000457067.1:p.Tyr150Phe
NM_052874.4:c.701A>T NP_443106.1:p.Tyr234Phe
XM_017022893.1:c.683A>T XP_016878382.1:p.Tyr228Phe
NM_052874.5:c.701A>T MANE Select NP_443106.1:p.Tyr234Phe