Canonical Allele Identifier: CA397101398
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Linked Data

ClinVar Variation Id: 843497
ClinVar RCV Id: RCV001046137
dbSNP Id: rs1427287935

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856812C>A , CM000678.2:g.88856812C>A GRCh38
NC_000016.9:g.88923220C>A , CM000678.1:g.88923220C>A GRCh37
NC_000016.8:g.87450721C>A NCBI36
NG_008667.1:g.5155G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.66G>T (GALNS) MANE Select ENSP00000268695.5:p.Met22Ile
ENST00000268695.9:c.66G>T (GALNS) ENSP00000268695.5:p.Met22Ile
ENST00000564365.5:c.-398+566C>A (TRAPPC2L) ENSP00000455447.1:n.-398+566C>A
ENST00000565364.1:n.31G>T (GALNS)
ENST00000567525.5:c.15G>T (GALNS) ENSP00000454484.1:p.Met5Ile
ENST00000568311.1:c.66G>T (GALNS) ENSP00000455006.1:p.Met22Ile
ENST00000568613.5:c.15G>T (GALNS) ENSP00000457921.1:p.Met5Ile
ENST00000569433.1:c.66G>T (GALNS) ENSP00000456884.1:p.Met22Ile
NM_000512.4:c.66G>T (GALNS) NP_000503.1:p.Met22Ile
XM_005256301.2:c.66G>T (GALNS) XP_005256358.1:p.Met22Ile
XM_005256302.1:c.-87G>T (GALNS) XP_005256359.1:n.-87G>T
XM_011522982.1:c.-87G>T (GALNS) XP_011521284.1:n.-87G>T
XM_011522984.1:c.-87G>T (GALNS) XP_011521286.1:n.-87G>T
NM_001323543.1:c.-366G>T (GALNS) NP_001310472.1:n.-366G>T
NM_001323544.1:c.-87G>T (GALNS) NP_001310473.1:n.-87G>T
NR_134671.1:n.27+566C>A (TRAPPC2L)
XM_005256301.3:c.66G>T (GALNS) XP_005256358.1:p.Met22Ile
XM_011522982.2:c.-87G>T (GALNS) XP_011521284.1:n.-87G>T
XM_017023113.1:c.-366G>T (GALNS) XP_016878602.1:n.-366G>T
NM_000512.5:c.66G>T (GALNS) MANE Select NP_000503.1:p.Met22Ile
NM_001323543.2:c.-366G>T (GALNS) NP_001310472.1:n.-366G>T
NM_001323544.2:c.-87G>T (GALNS) NP_001310473.1:n.-87G>T
NR_134671.2:n.27+566C>A (TRAPPC2L)