Canonical Allele Identifier: CA2241337860
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856500T= , CM000678.2:g.88856500T= GRCh38
NC_000016.9:g.88922908T= , CM000678.1:g.88922908T= GRCh37
NC_000016.8:g.87450409T= NCBI36
NG_008667.1:g.5467A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.120+258A= (GALNS) MANE Select ENSP00000268695.5:n.120+258A=
ENST00000268695.9:c.120+258A= (GALNS) ENSP00000268695.5:n.120+258A=
ENST00000562831.1:c.-22A= (GALNS) ENSP00000455174.1:n.-22A=
ENST00000564365.5:c.-398+254T= (TRAPPC2L) ENSP00000455447.1:n.-398+254T=
ENST00000565364.1:n.85+258A= (GALNS)
ENST00000567525.5:c.69+258A= (GALNS) ENSP00000454484.1:n.69+258A=
ENST00000568311.1:c.121-199A= (GALNS) ENSP00000455006.1:n.121-199A=
ENST00000568613.5:c.69+258A= (GALNS) ENSP00000457921.1:n.69+258A=
ENST00000569433.1:c.121-199A= (GALNS) ENSP00000456884.1:n.121-199A=
NM_000512.4:c.120+258A= (GALNS) NP_000503.1:n.120+258A=
XM_005256301.2:c.120+258A= (GALNS) XP_005256358.1:n.120+258A=
XM_005256302.1:c.-33+258A= (GALNS) XP_005256359.1:n.-33+258A=
XM_011522982.1:c.-33+258A= (GALNS) XP_011521284.1:n.-33+258A=
XM_011522984.1:c.-33+258A= (GALNS) XP_011521286.1:n.-33+258A=
XR_933884.1:n.80A=
NM_001323543.1:c.-312+258A= (GALNS) NP_001310472.1:n.-312+258A=
NM_001323544.1:c.-33+258A= (GALNS) NP_001310473.1:n.-33+258A=
NR_134671.1:n.27+254T= (TRAPPC2L)
XM_005256301.3:c.120+258A= (GALNS) XP_005256358.1:n.120+258A=
XM_011522982.2:c.-33+258A= (GALNS) XP_011521284.1:n.-33+258A=
XM_017023113.1:c.-312+258A= (GALNS) XP_016878602.1:n.-312+258A=
XR_933884.2:n.82A=
NM_000512.5:c.120+258A= (GALNS) MANE Select NP_000503.1:n.120+258A=
NM_001323543.2:c.-312+258A= (GALNS) NP_001310472.1:n.-312+258A=
NM_001323544.2:c.-33+258A= (GALNS) NP_001310473.1:n.-33+258A=
NR_134671.2:n.27+254T= (TRAPPC2L)