Canonical Allele Identifier: CA397101017

Gene: GALNS TRAPPC2L

Linked Data

• ClinVar Variation Id: 808142
• ClinVar RCV Id: RCV000996385
• dbSNP Id: rs1597615079
• gnomAD v4: 16-88856765-A-C
• MyVariant Identifiers: chr16:g.88923173A>C (hg19) ; chr16:g.88856765A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856765A>C , CM000678.2:g.88856765A>C	GRCh38
NC_000016.9:g.88923173A>C , CM000678.1:g.88923173A>C	GRCh37
NC_000016.8:g.87450674A>C	NCBI36
NG_008667.1:g.5202T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.113T>G (GALNS) MANE Select	ENSP00000268695.5:p.Met38Arg
ENST00000268695.9:c.113T>G (GALNS)	ENSP00000268695.5:p.Met38Arg
ENST00000564365.5:c.-398+519A>C (TRAPPC2L)	ENSP00000455447.1:n.-398+519A>C
ENST00000565364.1:n.78T>G (GALNS)
ENST00000567525.5:c.62T>G (GALNS)	ENSP00000454484.1:p.Met21Arg
ENST00000568311.1:c.113T>G (GALNS)	ENSP00000455006.1:p.Met38Arg
ENST00000568613.5:c.62T>G (GALNS)	ENSP00000457921.1:p.Met21Arg
ENST00000569433.1:c.113T>G (GALNS)	ENSP00000456884.1:p.Met38Arg
NM_000512.4:c.113T>G (GALNS)	NP_000503.1:p.Met38Arg
XM_005256301.2:c.113T>G (GALNS)	XP_005256358.1:p.Met38Arg
XM_005256302.1:c.-40T>G (GALNS)	XP_005256359.1:n.-40T>G
XM_011522982.1:c.-40T>G (GALNS)	XP_011521284.1:n.-40T>G
XM_011522984.1:c.-40T>G (GALNS)	XP_011521286.1:n.-40T>G
NM_001323543.1:c.-319T>G (GALNS)	NP_001310472.1:n.-319T>G
NM_001323544.1:c.-40T>G (GALNS)	NP_001310473.1:n.-40T>G
NR_134671.1:n.27+519A>C (TRAPPC2L)
XM_005256301.3:c.113T>G (GALNS)	XP_005256358.1:p.Met38Arg
XM_011522982.2:c.-40T>G (GALNS)	XP_011521284.1:n.-40T>G
XM_017023113.1:c.-319T>G (GALNS)	XP_016878602.1:n.-319T>G
NM_000512.5:c.113T>G (GALNS) MANE Select	NP_000503.1:p.Met38Arg
NM_001323543.2:c.-319T>G (GALNS)	NP_001310472.1:n.-319T>G
NM_001323544.2:c.-40T>G (GALNS)	NP_001310473.1:n.-40T>G
NR_134671.2:n.27+519A>C (TRAPPC2L)