Canonical Allele Identifier: CA15488819
Gene: STX1A HGNC NCBI

Linked Data

dbSNP Id: rs941298
gnomAD v2: 7-73125263-G-A
gnomAD v3: 7-73710933-G-A
gnomAD v4: 7-73710933-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73710933G>A , CM000669.2:g.73710933G>A GRCh38
NC_000007.13:g.73125263G>A , CM000669.1:g.73125263G>A GRCh37
NC_000007.12:g.72763199G>A NCBI36
NG_013360.1:g.13755C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222812.8:c.31-1811C>T MANE Select ENSP00000222812.3:n.31-1811C>T
ENST00000222812.7:c.31-1811C>T ENSP00000222812.3:n.31-1811C>T
ENST00000395154.7:c.31-1811C>T ENSP00000378583.3:n.31-1811C>T
ENST00000395155.3:c.31-1811C>T ENSP00000378584.3:n.31-1811C>T
ENST00000395156.7:c.31-1811C>T ENSP00000378585.3:n.31-1811C>T
ENST00000462135.1:n.72-1811C>T
ENST00000470878.5:n.180-1811C>T
NM_001165903.1:c.31-1811C>T NP_001159375.1:n.31-1811C>T
NM_004603.3:c.31-1811C>T NP_004594.1:n.31-1811C>T
XM_011516541.1:c.-57-1811C>T XP_011514843.1:n.-57-1811C>T
XR_242263.1:n.102-1811C>T
XR_927527.1:n.102-1811C>T
XR_927528.1:n.155-1811C>T
XM_017012567.2:c.31-1811C>T XP_016868056.1:n.31-1811C>T
XR_242263.2:n.73-1811C>T
XR_927527.2:n.73-1811C>T
NM_004603.4:c.31-1811C>T MANE Select NP_004594.1:n.31-1811C>T
NM_001165903.2:c.31-1811C>T NP_001159375.1:n.31-1811C>T