Canonical Allele Identifier: CA497090479

Gene: GALNS TRAPPC2L

Linked Data

• ClinVar Variation Id: 2419818
• ClinVar RCV Id: RCV003115703
• dbSNP Id: rs1481830268
• gnomAD v4: 16-88856803-C-G
• MyVariant Identifiers: chr16:g.88923211C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856803C>G , CM000678.2:g.88856803C>G	GRCh38
NC_000016.9:g.88923211C>G , CM000678.1:g.88923211C>G	GRCh37
NC_000016.8:g.87450712C>G	NCBI36
NG_008667.1:g.5164G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.75G>C (GALNS) MANE Select	ENSP00000268695.5:p.Ser25=
ENST00000268695.9:c.75G>C (GALNS)	ENSP00000268695.5:p.Ser25=
ENST00000564365.5:c.-398+557C>G (TRAPPC2L)	ENSP00000455447.1:n.-398+557C>G
ENST00000565364.1:n.40G>C (GALNS)
ENST00000567525.5:c.24G>C (GALNS)	ENSP00000454484.1:p.Ser8=
ENST00000568311.1:c.75G>C (GALNS)	ENSP00000455006.1:p.Ser25=
ENST00000568613.5:c.24G>C (GALNS)	ENSP00000457921.1:p.Ser8=
ENST00000569433.1:c.75G>C (GALNS)	ENSP00000456884.1:p.Ser25=
NM_000512.4:c.75G>C (GALNS)	NP_000503.1:p.Ser25=
XM_005256301.2:c.75G>C (GALNS)	XP_005256358.1:p.Ser25=
XM_005256302.1:c.-78G>C (GALNS)	XP_005256359.1:n.-78G>C
XM_011522982.1:c.-78G>C (GALNS)	XP_011521284.1:n.-78G>C
XM_011522984.1:c.-78G>C (GALNS)	XP_011521286.1:n.-78G>C
NM_001323543.1:c.-357G>C (GALNS)	NP_001310472.1:n.-357G>C
NM_001323544.1:c.-78G>C (GALNS)	NP_001310473.1:n.-78G>C
NR_134671.1:n.27+557C>G (TRAPPC2L)
XM_005256301.3:c.75G>C (GALNS)	XP_005256358.1:p.Ser25=
XM_011522982.2:c.-78G>C (GALNS)	XP_011521284.1:n.-78G>C
XM_017023113.1:c.-357G>C (GALNS)	XP_016878602.1:n.-357G>C
NM_000512.5:c.75G>C (GALNS) MANE Select	NP_000503.1:p.Ser25=
NM_001323543.2:c.-357G>C (GALNS)	NP_001310472.1:n.-357G>C
NM_001323544.2:c.-78G>C (GALNS)	NP_001310473.1:n.-78G>C
NR_134671.2:n.27+557C>G (TRAPPC2L)