Canonical Allele Identifier: CA1058762114

Gene: STX18

Linked Data

• dbSNP Id: rs1730664048
• gnomAD v3: 4-4524562-G-A
• gnomAD v4: 4-4524562-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4524562G>A , CM000666.2:g.4524562G>A	GRCh38
NC_000004.11:g.4526289G>A , CM000666.1:g.4526289G>A	GRCh37
NC_000004.10:g.4577190G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000306200.7:c.168+17235C>T MANE Select	ENSP00000305810.2:n.168+17235C>T
ENST00000306200.6:c.168+17235C>T	ENSP00000305810.2:n.168+17235C>T
ENST00000505286.5:c.168+17235C>T	ENSP00000426648.1:n.168+17235C>T
ENST00000507908.5:c.-76+17598C>T	ENSP00000422376.1:n.-76+17598C>T
ENST00000512780.2:n.235+17235C>T
NM_016930.2:c.168+17235C>T	NP_058626.1:n.168+17235C>T
XM_011513479.1:c.168+17235C>T	XP_011511781.1:n.168+17235C>T
XM_011513480.1:c.168+17235C>T	XP_011511782.1:n.168+17235C>T
XM_011513481.1:c.168+17235C>T	XP_011511783.1:n.168+17235C>T
XM_011513482.1:c.168+17235C>T	XP_011511784.1:n.168+17235C>T
XM_011513483.1:c.168+17235C>T	XP_011511785.1:n.168+17235C>T
XM_011513485.1:c.-76+17598C>T	XP_011511787.1:n.-76+17598C>T
XR_924956.1:n.231+17235C>T
XR_924957.1:n.231+17235C>T
XR_924958.1:n.231+17235C>T
NM_001346281.1:c.168+17235C>T	NP_001333210.1:n.168+17235C>T
NM_001346282.1:c.-76+17598C>T	NP_001333211.1:n.-76+17598C>T
NM_016930.3:c.168+17235C>T	NP_058626.1:n.168+17235C>T
NR_144414.1:n.270+17235C>T
XM_017008296.1:c.168+17235C>T	XP_016863785.1:n.168+17235C>T
XM_017008298.1:c.168+17235C>T	XP_016863787.1:n.168+17235C>T
XR_001741239.1:n.231+17235C>T
XR_001741564.1:n.3881C>T
NM_016930.4:c.168+17235C>T MANE Select	NP_058626.1:n.168+17235C>T
NM_001346281.2:c.168+17235C>T	NP_001333210.1:n.168+17235C>T
NM_001346282.2:c.-76+17598C>T	NP_001333211.1:n.-76+17598C>T
NR_144414.2:n.252+17235C>T