Canonical Allele Identifier: CA286411164

Gene: GALNS TRAPPC2L

Linked Data

• dbSNP Id: rs941555077
• gnomAD v3: 16-88856494-C-T
• gnomAD v4: 16-88856494-C-T
• MyVariant Identifiers: chr16:g.88922902C>T (hg19) ; chr16:g.88856494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856494C>T , CM000678.2:g.88856494C>T	GRCh38
NC_000016.9:g.88922902C>T , CM000678.1:g.88922902C>T	GRCh37
NC_000016.8:g.87450403C>T	NCBI36
NG_008667.1:g.5473G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.120+264G>A (GALNS) MANE Select	ENSP00000268695.5:n.120+264G>A
ENST00000268695.9:c.120+264G>A (GALNS)	ENSP00000268695.5:n.120+264G>A
ENST00000562831.1:c.-16G>A (GALNS)	ENSP00000455174.1:n.-16G>A
ENST00000564365.5:c.-398+248C>T (TRAPPC2L)	ENSP00000455447.1:n.-398+248C>T
ENST00000565364.1:n.85+264G>A (GALNS)
ENST00000567525.5:c.69+264G>A (GALNS)	ENSP00000454484.1:n.69+264G>A
ENST00000568311.1:c.121-193G>A (GALNS)	ENSP00000455006.1:n.121-193G>A
ENST00000568613.5:c.69+264G>A (GALNS)	ENSP00000457921.1:n.69+264G>A
ENST00000569433.1:c.121-193G>A (GALNS)	ENSP00000456884.1:n.121-193G>A
NM_000512.4:c.120+264G>A (GALNS)	NP_000503.1:n.120+264G>A
XM_005256301.2:c.120+264G>A (GALNS)	XP_005256358.1:n.120+264G>A
XM_005256302.1:c.-33+264G>A (GALNS)	XP_005256359.1:n.-33+264G>A
XM_011522982.1:c.-33+264G>A (GALNS)	XP_011521284.1:n.-33+264G>A
XM_011522984.1:c.-33+264G>A (GALNS)	XP_011521286.1:n.-33+264G>A
XR_933884.1:n.86G>A
NM_001323543.1:c.-312+264G>A (GALNS)	NP_001310472.1:n.-312+264G>A
NM_001323544.1:c.-33+264G>A (GALNS)	NP_001310473.1:n.-33+264G>A
NR_134671.1:n.27+248C>T (TRAPPC2L)
XM_005256301.3:c.120+264G>A (GALNS)	XP_005256358.1:n.120+264G>A
XM_011522982.2:c.-33+264G>A (GALNS)	XP_011521284.1:n.-33+264G>A
XM_017023113.1:c.-312+264G>A (GALNS)	XP_016878602.1:n.-312+264G>A
XR_933884.2:n.88G>A
NM_000512.5:c.120+264G>A (GALNS) MANE Select	NP_000503.1:n.120+264G>A
NM_001323543.2:c.-312+264G>A (GALNS)	NP_001310472.1:n.-312+264G>A
NM_001323544.2:c.-33+264G>A (GALNS)	NP_001310473.1:n.-33+264G>A
NR_134671.2:n.27+248C>T (TRAPPC2L)