Canonical Allele Identifier: CA15315624

Gene: STX18

Linked Data

• dbSNP Id: rs12644497
• gnomAD v2: 4-4526248-A-G
• gnomAD v3: 4-4524521-A-G
• gnomAD v4: 4-4524521-A-G
• MyVariant Identifiers: chr4:g.4526248A>G (hg19) ; chr4:g.4524521A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4524521A>G , CM000666.2:g.4524521A>G	GRCh38
NC_000004.11:g.4526248A>G , CM000666.1:g.4526248A>G	GRCh37
NC_000004.10:g.4577149A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000306200.7:c.168+17276T>C MANE Select	ENSP00000305810.2:n.168+17276T>C
ENST00000306200.6:c.168+17276T>C	ENSP00000305810.2:n.168+17276T>C
ENST00000505286.5:c.168+17276T>C	ENSP00000426648.1:n.168+17276T>C
ENST00000507908.5:c.-76+17639T>C	ENSP00000422376.1:n.-76+17639T>C
ENST00000512780.2:n.235+17276T>C
NM_016930.2:c.168+17276T>C	NP_058626.1:n.168+17276T>C
XM_011513479.1:c.168+17276T>C	XP_011511781.1:n.168+17276T>C
XM_011513480.1:c.168+17276T>C	XP_011511782.1:n.168+17276T>C
XM_011513481.1:c.168+17276T>C	XP_011511783.1:n.168+17276T>C
XM_011513482.1:c.168+17276T>C	XP_011511784.1:n.168+17276T>C
XM_011513483.1:c.168+17276T>C	XP_011511785.1:n.168+17276T>C
XM_011513485.1:c.-76+17639T>C	XP_011511787.1:n.-76+17639T>C
XR_924956.1:n.231+17276T>C
XR_924957.1:n.231+17276T>C
XR_924958.1:n.231+17276T>C
NM_001346281.1:c.168+17276T>C	NP_001333210.1:n.168+17276T>C
NM_001346282.1:c.-76+17639T>C	NP_001333211.1:n.-76+17639T>C
NM_016930.3:c.168+17276T>C	NP_058626.1:n.168+17276T>C
NR_144414.1:n.270+17276T>C
XM_017008296.1:c.168+17276T>C	XP_016863785.1:n.168+17276T>C
XM_017008298.1:c.168+17276T>C	XP_016863787.1:n.168+17276T>C
XR_001741239.1:n.231+17276T>C
XR_001741564.1:n.3922T>C
NM_016930.4:c.168+17276T>C MANE Select	NP_058626.1:n.168+17276T>C
NM_001346281.2:c.168+17276T>C	NP_001333210.1:n.168+17276T>C
NM_001346282.2:c.-76+17639T>C	NP_001333211.1:n.-76+17639T>C
NR_144414.2:n.252+17276T>C