Canonical Allele Identifier: CA8235404

Gene: GALNS TRAPPC2L

Linked Data

• ClinVar Variation Id: 2913973
• ClinVar RCV Id: RCV003598737
• dbSNP Id: rs777090049
• ExAC: 16:88923199 C / T
• gnomAD v2: 16-88923199-C-T
• gnomAD v3: 16-88856791-C-T
• gnomAD v4: 16-88856791-C-T
• MyVariant Identifiers: chr16:g.88923199C>T (hg19) ; chr16:g.88856791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856791C>T , CM000678.2:g.88856791C>T	GRCh38
NC_000016.9:g.88923199C>T , CM000678.1:g.88923199C>T	GRCh37
NC_000016.8:g.87450700C>T	NCBI36
NG_008667.1:g.5176G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.87G>A (GALNS) MANE Select	ENSP00000268695.5:p.Gln29=
ENST00000268695.9:c.87G>A (GALNS)	ENSP00000268695.5:p.Gln29=
ENST00000564365.5:c.-398+545C>T (TRAPPC2L)	ENSP00000455447.1:n.-398+545C>T
ENST00000565364.1:n.52G>A (GALNS)
ENST00000567525.5:c.36G>A (GALNS)	ENSP00000454484.1:p.Gln12=
ENST00000568311.1:c.87G>A (GALNS)	ENSP00000455006.1:p.Gln29=
ENST00000568613.5:c.36G>A (GALNS)	ENSP00000457921.1:p.Gln12=
ENST00000569433.1:c.87G>A (GALNS)	ENSP00000456884.1:p.Gln29=
NM_000512.4:c.87G>A (GALNS)	NP_000503.1:p.Gln29=
XM_005256301.2:c.87G>A (GALNS)	XP_005256358.1:p.Gln29=
XM_005256302.1:c.-66G>A (GALNS)	XP_005256359.1:n.-66G>A
XM_011522982.1:c.-66G>A (GALNS)	XP_011521284.1:n.-66G>A
XM_011522984.1:c.-66G>A (GALNS)	XP_011521286.1:n.-66G>A
NM_001323543.1:c.-345G>A (GALNS)	NP_001310472.1:n.-345G>A
NM_001323544.1:c.-66G>A (GALNS)	NP_001310473.1:n.-66G>A
NR_134671.1:n.27+545C>T (TRAPPC2L)
XM_005256301.3:c.87G>A (GALNS)	XP_005256358.1:p.Gln29=
XM_011522982.2:c.-66G>A (GALNS)	XP_011521284.1:n.-66G>A
XM_017023113.1:c.-345G>A (GALNS)	XP_016878602.1:n.-345G>A
NM_000512.5:c.87G>A (GALNS) MANE Select	NP_000503.1:p.Gln29=
NM_001323543.2:c.-345G>A (GALNS)	NP_001310472.1:n.-345G>A
NM_001323544.2:c.-66G>A (GALNS)	NP_001310473.1:n.-66G>A
NR_134671.2:n.27+545C>T (TRAPPC2L)