Canonical Allele Identifier: CA397102116

Gene: GALNS TRAPPC2L

Linked Data

• dbSNP Id: rs755961313
• gnomAD v3: 16-88856848-C-T
• gnomAD v4: 16-88856848-C-T
• MyVariant Identifiers: chr16:g.88923256C>T (hg19) ; chr16:g.88856848C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856848C>T , CM000678.2:g.88856848C>T	GRCh38
NC_000016.9:g.88923256C>T , CM000678.1:g.88923256C>T	GRCh37
NC_000016.8:g.87450757C>T	NCBI36
NG_008667.1:g.5119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.30G>A (GALNS) MANE Select	ENSP00000268695.5:p.Trp10Ter
ENST00000268695.9:c.30G>A (GALNS)	ENSP00000268695.5:p.Trp10Ter
ENST00000564365.5:c.-398+602C>T (TRAPPC2L)	ENSP00000455447.1:n.-398+602C>T
ENST00000568311.1:c.30G>A (GALNS)	ENSP00000455006.1:p.Trp10Ter
ENST00000569433.1:c.30G>A (GALNS)	ENSP00000456884.1:p.Trp10Ter
NM_000512.4:c.30G>A (GALNS)	NP_000503.1:p.Trp10Ter
XM_005256301.2:c.30G>A (GALNS)	XP_005256358.1:p.Trp10Ter
NM_001323543.1:c.-402G>A (GALNS)	NP_001310472.1:n.-402G>A
NM_001323544.1:c.-123G>A (GALNS)	NP_001310473.1:n.-123G>A
NR_134671.1:n.27+602C>T (TRAPPC2L)
XM_005256301.3:c.30G>A (GALNS)	XP_005256358.1:p.Trp10Ter
XM_017023113.1:c.-402G>A (GALNS)	XP_016878602.1:n.-402G>A
NM_000512.5:c.30G>A (GALNS) MANE Select	NP_000503.1:p.Trp10Ter
NM_001323543.2:c.-402G>A (GALNS)	NP_001310472.1:n.-402G>A
NM_001323544.2:c.-123G>A (GALNS)	NP_001310473.1:n.-123G>A
NR_134671.2:n.27+602C>T (TRAPPC2L)