Canonical Allele Identifier: CA397102215

Gene: GALNS TRAPPC2L

Linked Data

• ClinVar Variation Id: 1441991
• ClinVar RCV Id: RCV001952884
• dbSNP Id: rs1415400985
• gnomAD v3: 16-88856865-C-T
• gnomAD v4: 16-88856865-C-T
• MyVariant Identifiers: chr16:g.88923273C>T (hg19) ; chr16:g.88856865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856865C>T , CM000678.2:g.88856865C>T	GRCh38
NC_000016.9:g.88923273C>T , CM000678.1:g.88923273C>T	GRCh37
NC_000016.8:g.87450774C>T	NCBI36
NG_008667.1:g.5102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.13G>A (GALNS) MANE Select	ENSP00000268695.5:p.Val5Ile
ENST00000268695.9:c.13G>A (GALNS)	ENSP00000268695.5:p.Val5Ile
ENST00000564365.5:c.-398+619C>T (TRAPPC2L)	ENSP00000455447.1:n.-398+619C>T
ENST00000568311.1:c.13G>A (GALNS)	ENSP00000455006.1:p.Val5Ile
ENST00000569433.1:c.13G>A (GALNS)	ENSP00000456884.1:p.Val5Ile
NM_000512.4:c.13G>A (GALNS)	NP_000503.1:p.Val5Ile
XM_005256301.2:c.13G>A (GALNS)	XP_005256358.1:p.Val5Ile
NM_001323543.1:c.-419G>A (GALNS)	NP_001310472.1:n.-419G>A
NM_001323544.1:c.-140G>A (GALNS)	NP_001310473.1:n.-140G>A
NR_134671.1:n.27+619C>T (TRAPPC2L)
XM_005256301.3:c.13G>A (GALNS)	XP_005256358.1:p.Val5Ile
XM_017023113.1:c.-419G>A (GALNS)	XP_016878602.1:n.-419G>A
NM_000512.5:c.13G>A (GALNS) MANE Select	NP_000503.1:p.Val5Ile
NM_001323543.2:c.-419G>A (GALNS)	NP_001310472.1:n.-419G>A
NM_001323544.2:c.-140G>A (GALNS)	NP_001310473.1:n.-140G>A
NR_134671.2:n.27+619C>T (TRAPPC2L)