Canonical Allele Identifier: CA597408649
Gene: SYT9 HGNC NCBI

Linked Data

dbSNP Id: rs1295962031
gnomAD v2: 11-7367357-C-G
gnomAD v3: 11-7346126-C-G
gnomAD v4: 11-7346126-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.7346126C>G , CM000673.2:g.7346126C>G GRCh38
NC_000011.9:g.7367357C>G , CM000673.1:g.7367357C>G GRCh37
NC_000011.8:g.7323933C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000318881.11:c.1044+32185C>G MANE Select ENSP00000324419.6:n.1044+32185C>G
ENST00000318881.10:c.1044+32185C>G ENSP00000324419.6:n.1044+32185C>G
ENST00000524820.6:c.*141+31789C>G ENSP00000432141.2:n.*141+31789C>G
ENST00000532592.1:c.497+42736C>G ENSP00000434558.1:n.497+42736C>G
NM_175733.3:c.1044+32185C>G NP_783860.1:n.1044+32185C>G
XM_005252795.2:c.1044+32185C>G XP_005252852.1:n.1044+32185C>G
XM_011519900.1:c.1044+32185C>G XP_011518202.1:n.1044+32185C>G
XM_011519901.1:c.1044+32185C>G XP_011518203.1:n.1044+32185C>G
XM_011519902.1:c.948+32185C>G XP_011518204.1:n.948+32185C>G
XM_011519903.1:c.1044+32185C>G XP_011518205.1:n.1044+32185C>G
XM_011519904.1:c.1044+32185C>G XP_011518206.1:n.1044+32185C>G
XM_011519905.1:c.1044+32185C>G XP_011518207.1:n.1044+32185C>G
XM_011519900.2:c.1044+32185C>G XP_011518202.1:n.1044+32185C>G
XM_011519901.2:c.1044+32185C>G XP_011518203.1:n.1044+32185C>G
XM_011519902.2:c.948+32185C>G XP_011518204.1:n.948+32185C>G
XM_011519904.2:c.1044+32185C>G XP_011518206.1:n.1044+32185C>G
XR_001747772.1:n.1259+32185C>G
XR_001747773.1:n.1259+32185C>G
NM_175733.4:c.1044+32185C>G MANE Select NP_783860.1:n.1044+32185C>G