Canonical Allele Identifier: CA397102045
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Linked Data

dbSNP Id: rs1203477070

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856840A>C , CM000678.2:g.88856840A>C GRCh38
NC_000016.9:g.88923248A>C , CM000678.1:g.88923248A>C GRCh37
NC_000016.8:g.87450749A>C NCBI36
NG_008667.1:g.5127T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.38T>G (GALNS) MANE Select ENSP00000268695.5:p.Leu13Arg
ENST00000268695.9:c.38T>G (GALNS) ENSP00000268695.5:p.Leu13Arg
ENST00000564365.5:c.-398+594A>C (TRAPPC2L) ENSP00000455447.1:n.-398+594A>C
ENST00000565364.1:n.3T>G (GALNS)
ENST00000568311.1:c.38T>G (GALNS) ENSP00000455006.1:p.Leu13Arg
ENST00000569433.1:c.38T>G (GALNS) ENSP00000456884.1:p.Leu13Arg
NM_000512.4:c.38T>G (GALNS) NP_000503.1:p.Leu13Arg
XM_005256301.2:c.38T>G (GALNS) XP_005256358.1:p.Leu13Arg
XM_005256302.1:c.-115T>G (GALNS) XP_005256359.1:n.-115T>G
XM_011522982.1:c.-115T>G (GALNS) XP_011521284.1:n.-115T>G
XM_011522984.1:c.-115T>G (GALNS) XP_011521286.1:n.-115T>G
NM_001323543.1:c.-394T>G (GALNS) NP_001310472.1:n.-394T>G
NM_001323544.1:c.-115T>G (GALNS) NP_001310473.1:n.-115T>G
NR_134671.1:n.27+594A>C (TRAPPC2L)
XM_005256301.3:c.38T>G (GALNS) XP_005256358.1:p.Leu13Arg
XM_011522982.2:c.-115T>G (GALNS) XP_011521284.1:n.-115T>G
XM_017023113.1:c.-394T>G (GALNS) XP_016878602.1:n.-394T>G
NM_000512.5:c.38T>G (GALNS) MANE Select NP_000503.1:p.Leu13Arg
NM_001323543.2:c.-394T>G (GALNS) NP_001310472.1:n.-394T>G
NM_001323544.2:c.-115T>G (GALNS) NP_001310473.1:n.-115T>G
NR_134671.2:n.27+594A>C (TRAPPC2L)