Canonical Allele Identifier: CA6132602
Community Standard Title: NM_177963.4(SYT12):c.700A>G (p.Ser234Gly)
Gene: SYT12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67043716A>G , CM000673.2:g.67043716A>G GRCh38
NC_000011.9:g.66811187A>G , CM000673.1:g.66811187A>G GRCh37
NC_000011.8:g.66567763A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_177963.4:c.700A>G MANE Select NP_808878.1:p.Ser234Gly
ENST00000527043.6:c.700A>G MANE Select ENSP00000435316.1:p.Ser234Gly
NM_001177880.1:c.700A>G NP_001171351.1:p.Ser234Gly
NM_001177880.2:c.700A>G NP_001171351.1:p.Ser234Gly
NM_001318773.1:c.355A>G NP_001305702.1:p.Ser119Gly
NM_001318773.2:c.355A>G NP_001305702.1:p.Ser119Gly
NM_001318775.1:c.355A>G NP_001305704.1:p.Ser119Gly
NM_001318775.2:c.355A>G NP_001305704.1:p.Ser119Gly
NM_177963.3:c.700A>G NP_808878.1:p.Ser234Gly
ENST00000393946.6:c.700A>G ENSP00000377520.2:p.Ser234Gly
ENST00000525457.5:c.700A>G ENSP00000431400.1:p.Ser234Gly
ENST00000527043.5:c.700A>G ENSP00000435316.1:p.Ser234Gly
XM_006718737.2:c.754A>G XP_006718800.1:p.Ser252Gly
XM_006718737.4:c.754A>G XP_006718800.1:p.Ser252Gly
XM_011545346.1:c.805A>G XP_011543648.1:p.Ser269Gly
XM_011545346.3:c.805A>G XP_011543648.1:p.Ser269Gly
XM_011545347.1:c.700A>G XP_011543649.1:p.Ser234Gly
XM_011545348.1:c.355A>G XP_011543650.1:p.Ser119Gly
XM_017018547.1:c.355A>G XP_016874036.1:p.Ser119Gly
XM_017018548.1:c.355A>G XP_016874037.1:p.Ser119Gly
XM_024448766.1:c.898A>G XP_024304534.1:p.Ser300Gly