Canonical Allele Identifier: CA2241337916
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856571G= , CM000678.2:g.88856571G= GRCh38
NC_000016.9:g.88922979G= , CM000678.1:g.88922979G= GRCh37
NC_000016.8:g.87450480G= NCBI36
NG_008667.1:g.5396C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.120+187C= (GALNS) MANE Select ENSP00000268695.5:n.120+187C=
ENST00000268695.9:c.120+187C= (GALNS) ENSP00000268695.5:n.120+187C=
ENST00000562831.1:c.-93C= (GALNS) ENSP00000455174.1:n.-93C=
ENST00000564365.5:c.-398+325G= (TRAPPC2L) ENSP00000455447.1:n.-398+325G=
ENST00000565364.1:n.85+187C= (GALNS)
ENST00000567525.5:c.69+187C= (GALNS) ENSP00000454484.1:n.69+187C=
ENST00000568311.1:c.120+187C= (GALNS) ENSP00000455006.1:n.120+187C=
ENST00000568613.5:c.69+187C= (GALNS) ENSP00000457921.1:n.69+187C=
ENST00000569433.1:c.120+187C= (GALNS) ENSP00000456884.1:n.120+187C=
NM_000512.4:c.120+187C= (GALNS) NP_000503.1:n.120+187C=
XM_005256301.2:c.120+187C= (GALNS) XP_005256358.1:n.120+187C=
XM_005256302.1:c.-33+187C= (GALNS) XP_005256359.1:n.-33+187C=
XM_011522982.1:c.-33+187C= (GALNS) XP_011521284.1:n.-33+187C=
XM_011522984.1:c.-33+187C= (GALNS) XP_011521286.1:n.-33+187C=
XR_933884.1:n.9C=
NM_001323543.1:c.-312+187C= (GALNS) NP_001310472.1:n.-312+187C=
NM_001323544.1:c.-33+187C= (GALNS) NP_001310473.1:n.-33+187C=
NR_134671.1:n.27+325G= (TRAPPC2L)
XM_005256301.3:c.120+187C= (GALNS) XP_005256358.1:n.120+187C=
XM_011522982.2:c.-33+187C= (GALNS) XP_011521284.1:n.-33+187C=
XM_017023113.1:c.-312+187C= (GALNS) XP_016878602.1:n.-312+187C=
XR_933884.2:n.11C=
NM_000512.5:c.120+187C= (GALNS) MANE Select NP_000503.1:n.120+187C=
NM_001323543.2:c.-312+187C= (GALNS) NP_001310472.1:n.-312+187C=
NM_001323544.2:c.-33+187C= (GALNS) NP_001310473.1:n.-33+187C=
NR_134671.2:n.27+325G= (TRAPPC2L)