Canonical Allele Identifier: CA8235399
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI
ClinVar RCV:
RCV001116254
ClinVar Variation:
884933
dbSNP:
768296954
gnomAD v2:
16:88923189 T / C
gnomAD v3:
16:88856781 T / C
gnomAD v4:
chr16-88856781-T-C
Joint Max Group AF 0.00001327 (NFE)
Genomes Max Group AF 0.00003803 (NFE)
Exomes Max Group AF 0.00000953 (NFE)
MyVariant.info:
GRCh38 chr16:g.88856781T>C
GRCh37 chr16:g.88923189T>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856781T>C , CM000678.2:g.88856781T>C GRCh38
NC_000016.9:g.88923189T>C , CM000678.1:g.88923189T>C GRCh37
NC_000016.8:g.87450690T>C NCBI36
NG_008667.1:g.5186A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.97A>G (GALNS) MANE Select ENSP00000268695.5:p.Ile33Val
ENST00000268695.9:c.97A>G (GALNS) ENSP00000268695.5:p.Ile33Val
ENST00000564365.5:c.-398+535T>C (TRAPPC2L) ENSP00000455447.1:n.-398+535T>C
ENST00000565364.1:n.62A>G (GALNS)
ENST00000567525.5:c.46A>G (GALNS) ENSP00000454484.1:p.Ile16Val
ENST00000568311.1:c.97A>G (GALNS) ENSP00000455006.1:p.Ile33Val
ENST00000568613.5:c.46A>G (GALNS) ENSP00000457921.1:p.Ile16Val
ENST00000569433.1:c.97A>G (GALNS) ENSP00000456884.1:p.Ile33Val
NM_000512.4:c.97A>G (GALNS) NP_000503.1:p.Ile33Val
XM_005256301.2:c.97A>G (GALNS) XP_005256358.1:p.Ile33Val
XM_005256302.1:c.-56A>G (GALNS) XP_005256359.1:n.-56A>G
XM_011522982.1:c.-56A>G (GALNS) XP_011521284.1:n.-56A>G
XM_011522984.1:c.-56A>G (GALNS) XP_011521286.1:n.-56A>G
NM_001323543.1:c.-335A>G (GALNS) NP_001310472.1:n.-335A>G
NM_001323544.1:c.-56A>G (GALNS) NP_001310473.1:n.-56A>G
NR_134671.1:n.27+535T>C (TRAPPC2L)
XM_005256301.3:c.97A>G (GALNS) XP_005256358.1:p.Ile33Val
XM_011522982.2:c.-56A>G (GALNS) XP_011521284.1:n.-56A>G
XM_017023113.1:c.-335A>G (GALNS) XP_016878602.1:n.-335A>G
NM_000512.5:c.97A>G (GALNS) MANE Select NP_000503.1:p.Ile33Val
NM_001323543.2:c.-335A>G (GALNS) NP_001310472.1:n.-335A>G
NM_001323544.2:c.-56A>G (GALNS) NP_001310473.1:n.-56A>G
NR_134671.2:n.27+535T>C (TRAPPC2L)
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