Canonical Allele Identifier: CA397101235

Gene: GALNS TRAPPC2L

Linked Data

• ClinVar Variation Id: 1048253
• ClinVar RCV Id: RCV001578353
• dbSNP Id: rs1287332192
• gnomAD v4: 16-88856793-G-A
• MyVariant Identifiers: chr16:g.88923201G>A (hg19) ; chr16:g.88856793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856793G>A , CM000678.2:g.88856793G>A	GRCh38
NC_000016.9:g.88923201G>A , CM000678.1:g.88923201G>A	GRCh37
NC_000016.8:g.87450702G>A	NCBI36
NG_008667.1:g.5174C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.85C>T (GALNS) MANE Select	ENSP00000268695.5:p.Gln29Ter
ENST00000268695.9:c.85C>T (GALNS)	ENSP00000268695.5:p.Gln29Ter
ENST00000564365.5:c.-398+547G>A (TRAPPC2L)	ENSP00000455447.1:n.-398+547G>A
ENST00000565364.1:n.50C>T (GALNS)
ENST00000567525.5:c.34C>T (GALNS)	ENSP00000454484.1:p.Gln12Ter
ENST00000568311.1:c.85C>T (GALNS)	ENSP00000455006.1:p.Gln29Ter
ENST00000568613.5:c.34C>T (GALNS)	ENSP00000457921.1:p.Gln12Ter
ENST00000569433.1:c.85C>T (GALNS)	ENSP00000456884.1:p.Gln29Ter
NM_000512.4:c.85C>T (GALNS)	NP_000503.1:p.Gln29Ter
XM_005256301.2:c.85C>T (GALNS)	XP_005256358.1:p.Gln29Ter
XM_005256302.1:c.-68C>T (GALNS)	XP_005256359.1:n.-68C>T
XM_011522982.1:c.-68C>T (GALNS)	XP_011521284.1:n.-68C>T
XM_011522984.1:c.-68C>T (GALNS)	XP_011521286.1:n.-68C>T
NM_001323543.1:c.-347C>T (GALNS)	NP_001310472.1:n.-347C>T
NM_001323544.1:c.-68C>T (GALNS)	NP_001310473.1:n.-68C>T
NR_134671.1:n.27+547G>A (TRAPPC2L)
XM_005256301.3:c.85C>T (GALNS)	XP_005256358.1:p.Gln29Ter
XM_011522982.2:c.-68C>T (GALNS)	XP_011521284.1:n.-68C>T
XM_017023113.1:c.-347C>T (GALNS)	XP_016878602.1:n.-347C>T
NM_000512.5:c.85C>T (GALNS) MANE Select	NP_000503.1:p.Gln29Ter
NM_001323543.2:c.-347C>T (GALNS)	NP_001310472.1:n.-347C>T
NM_001323544.2:c.-68C>T (GALNS)	NP_001310473.1:n.-68C>T
NR_134671.2:n.27+547G>A (TRAPPC2L)