Canonical Allele Identifier: CA8235408
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Linked Data

ClinVar Variation Id: 321211
ClinVar RCV Id: RCV000307369
dbSNP Id: rs763093375

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856825C>G , CM000678.2:g.88856825C>G GRCh38
NC_000016.9:g.88923233C>G , CM000678.1:g.88923233C>G GRCh37
NC_000016.8:g.87450734C>G NCBI36
NG_008667.1:g.5142G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.53G>C (GALNS) MANE Select ENSP00000268695.5:p.Ser18Thr
ENST00000268695.9:c.53G>C (GALNS) ENSP00000268695.5:p.Ser18Thr
ENST00000564365.5:c.-398+579C>G (TRAPPC2L) ENSP00000455447.1:n.-398+579C>G
ENST00000565364.1:n.18G>C (GALNS)
ENST00000567525.5:c.2G>C (GALNS) ENSP00000454484.1:p.Ser1Thr
ENST00000568311.1:c.53G>C (GALNS) ENSP00000455006.1:p.Ser18Thr
ENST00000568613.5:c.2G>C (GALNS) ENSP00000457921.1:p.Ser1Thr
ENST00000569433.1:c.53G>C (GALNS) ENSP00000456884.1:p.Ser18Thr
NM_000512.4:c.53G>C (GALNS) NP_000503.1:p.Ser18Thr
XM_005256301.2:c.53G>C (GALNS) XP_005256358.1:p.Ser18Thr
XM_005256302.1:c.-100G>C (GALNS) XP_005256359.1:n.-100G>C
XM_011522982.1:c.-100G>C (GALNS) XP_011521284.1:n.-100G>C
XM_011522984.1:c.-100G>C (GALNS) XP_011521286.1:n.-100G>C
NM_001323543.1:c.-379G>C (GALNS) NP_001310472.1:n.-379G>C
NM_001323544.1:c.-100G>C (GALNS) NP_001310473.1:n.-100G>C
NR_134671.1:n.27+579C>G (TRAPPC2L)
XM_005256301.3:c.53G>C (GALNS) XP_005256358.1:p.Ser18Thr
XM_011522982.2:c.-100G>C (GALNS) XP_011521284.1:n.-100G>C
XM_017023113.1:c.-379G>C (GALNS) XP_016878602.1:n.-379G>C
NM_000512.5:c.53G>C (GALNS) MANE Select NP_000503.1:p.Ser18Thr
NM_001323543.2:c.-379G>C (GALNS) NP_001310472.1:n.-379G>C
NM_001323544.2:c.-100G>C (GALNS) NP_001310473.1:n.-100G>C
NR_134671.2:n.27+579C>G (TRAPPC2L)