Canonical Allele Identifier: CA5586631
Community Standard Title: NM_003087.3(SNCG):c.349G>C (p.Glu117Gln)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86962661G>C , CM000672.2:g.86962661G>C GRCh38
NC_000010.10:g.88722418G>C , CM000672.1:g.88722418G>C GRCh37
NC_000010.9:g.88712398G>C NCBI36
NG_008783.1:g.9131G>C
NG_032913.2:g.11821C>G
NG_032913.3:g.11821C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003087.3:c.349G>C (SNCG) MANE Select NP_003078.2:p.Glu117Gln
ENST00000372017.4:c.349G>C (SNCG) MANE Select ENSP00000361087.3:p.Glu117Gln
NM_001330120.1:c.*20G>C (SNCG) NP_001317049.1:n.*20G>C
NM_001330120.2:c.*20G>C (SNCG) NP_001317049.1:n.*20G>C
NM_003087.2:c.349G>C (SNCG) NP_003078.2:p.Glu117Gln
ENST00000348795.8:c.*20G>C (SNCG) ENSP00000344658.4:n.*20G>C
ENST00000372017.3:c.349G>C (SNCG) ENSP00000361087.3:p.Glu117Gln
ENST00000465679.5:n.429G>C (SNCG)
ENST00000474994.2:c.-20+6381C>G (MMRN2) ENSP00000473405.1:n.-20+6381C>G
ENST00000483064.1:n.486G>C (SNCG)
ENST00000609457.5:c.-8+6381C>G (MMRN2) ENSP00000476378.1:n.-8+6381C>G
XM_006717970.2:c.-20+6381C>G (MMRN2) XP_006718033.1:n.-20+6381C>G
XM_006717970.4:c.-20+6381C>G (MMRN2) XP_006718033.1:n.-20+6381C>G
XM_011540105.1:c.*20G>C (SNCG) XP_011538407.1:n.*20G>C
XM_024448137.1:c.*20G>C (SNCG) XP_024303905.1:n.*20G>C