Canonical Allele Identifier: CA217207558
Gene: SYT9 HGNC NCBI

Linked Data

dbSNP Id: rs888391203
gnomAD v2: 11-7367184-G-A
gnomAD v3: 11-7345953-G-A
gnomAD v4: 11-7345953-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.7345953G>A , CM000673.2:g.7345953G>A GRCh38
NC_000011.9:g.7367184G>A , CM000673.1:g.7367184G>A GRCh37
NC_000011.8:g.7323760G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000318881.11:c.1044+32012G>A MANE Select ENSP00000324419.6:n.1044+32012G>A
ENST00000318881.10:c.1044+32012G>A ENSP00000324419.6:n.1044+32012G>A
ENST00000524820.6:c.*141+31616G>A ENSP00000432141.2:n.*141+31616G>A
ENST00000532592.1:c.497+42563G>A ENSP00000434558.1:n.497+42563G>A
NM_175733.3:c.1044+32012G>A NP_783860.1:n.1044+32012G>A
XM_005252795.2:c.1044+32012G>A XP_005252852.1:n.1044+32012G>A
XM_011519900.1:c.1044+32012G>A XP_011518202.1:n.1044+32012G>A
XM_011519901.1:c.1044+32012G>A XP_011518203.1:n.1044+32012G>A
XM_011519902.1:c.948+32012G>A XP_011518204.1:n.948+32012G>A
XM_011519903.1:c.1044+32012G>A XP_011518205.1:n.1044+32012G>A
XM_011519904.1:c.1044+32012G>A XP_011518206.1:n.1044+32012G>A
XM_011519905.1:c.1044+32012G>A XP_011518207.1:n.1044+32012G>A
XM_011519900.2:c.1044+32012G>A XP_011518202.1:n.1044+32012G>A
XM_011519901.2:c.1044+32012G>A XP_011518203.1:n.1044+32012G>A
XM_011519902.2:c.948+32012G>A XP_011518204.1:n.948+32012G>A
XM_011519904.2:c.1044+32012G>A XP_011518206.1:n.1044+32012G>A
XR_001747772.1:n.1259+32012G>A
XR_001747773.1:n.1259+32012G>A
NM_175733.4:c.1044+32012G>A MANE Select NP_783860.1:n.1044+32012G>A