Canonical Allele Identifier: CA217986776
Gene: GALNT18 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.11448205G>T , CM000673.2:g.11448205G>T GRCh38
NC_000011.9:g.11469752G>T , CM000673.1:g.11469752G>T GRCh37
NC_000011.8:g.11426328G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000227756.5:c.428+539C>A MANE Select ENSP00000227756.4:n.428+539C>A
ENST00000227756.4:c.428+539C>A ENSP00000227756.4:n.428+539C>A
NM_198516.2:c.428+539C>A NP_940918.2:n.428+539C>A
XM_006718224.2:c.428+539C>A XP_006718287.1:n.428+539C>A
XM_006718225.2:c.428+539C>A XP_006718288.1:n.428+539C>A
XM_011520068.1:c.-104+539C>A XP_011518370.1:n.-104+539C>A
XM_011520069.1:c.428+539C>A XP_011518371.1:n.428+539C>A
XM_011520070.1:c.428+539C>A XP_011518372.1:n.428+539C>A
XM_011520071.1:c.428+539C>A XP_011518373.1:n.428+539C>A
NM_001363464.1:c.428+539C>A NP_001350393.1:n.428+539C>A
XM_006718225.3:c.428+539C>A XP_006718288.1:n.428+539C>A
XM_011520068.2:c.-104+539C>A XP_011518370.1:n.-104+539C>A
XM_011520069.3:c.428+539C>A XP_011518371.1:n.428+539C>A
XM_011520070.3:c.428+539C>A XP_011518372.1:n.428+539C>A
XM_011520071.3:c.428+539C>A XP_011518373.1:n.428+539C>A
NM_198516.3:c.428+539C>A MANE Select NP_940918.2:n.428+539C>A
NM_001363464.2:c.428+539C>A NP_001350393.1:n.428+539C>A