Canonical Allele Identifier: CA6132783

Gene: SYT12

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67048597G>A , CM000673.2:g.67048597G>A	GRCh38
NC_000011.9:g.66816068G>A , CM000673.1:g.66816068G>A	GRCh37
NC_000011.8:g.66572644G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527043.6:c.1106G>A MANE Select	ENSP00000435316.1:p.Arg369His
ENST00000393946.6:c.1106G>A	ENSP00000377520.2:p.Arg369His
ENST00000525457.5:c.1106G>A	ENSP00000431400.1:p.Arg369His
ENST00000527043.5:c.1106G>A	ENSP00000435316.1:p.Arg369His
NM_001177880.1:c.1106G>A	NP_001171351.1:p.Arg369His
NM_177963.3:c.1106G>A	NP_808878.1:p.Arg369His
XM_006718737.2:c.1160G>A	XP_006718800.1:p.Arg387His
XM_011545346.1:c.1211G>A	XP_011543648.1:p.Arg404His
XM_011545347.1:c.1106G>A	XP_011543649.1:p.Arg369His
XM_011545348.1:c.761G>A	XP_011543650.1:p.Arg254His
NM_001318773.1:c.761G>A	NP_001305702.1:p.Arg254His
NM_001318775.1:c.761G>A	NP_001305704.1:p.Arg254His
XM_006718737.4:c.1160G>A	XP_006718800.1:p.Arg387His
XM_011545346.3:c.1211G>A	XP_011543648.1:p.Arg404His
XM_017018547.1:c.761G>A	XP_016874036.1:p.Arg254His
XM_017018548.1:c.761G>A	XP_016874037.1:p.Arg254His
XM_024448766.1:c.1304G>A	XP_024304534.1:p.Arg435His
NM_177963.4:c.1106G>A MANE Select	NP_808878.1:p.Arg369His
NM_001177880.2:c.1106G>A	NP_001171351.1:p.Arg369His
NM_001318773.2:c.761G>A	NP_001305702.1:p.Arg254His
NM_001318775.2:c.761G>A	NP_001305704.1:p.Arg254His