Canonical Allele Identifier: CA497090320

Gene: GALNS TRAPPC2L

Linked Data

• ClinVar Variation Id: 2998847
• ClinVar RCV Id: RCV003859494
• dbSNP Id: rs748866414
• gnomAD v2: 16-88923184-C-A
• gnomAD v4: 16-88856776-C-A
• MyVariant Identifiers: chr16:g.88923184C>A (hg19) ; chr16:g.88856776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856776C>A , CM000678.2:g.88856776C>A	GRCh38
NC_000016.9:g.88923184C>A , CM000678.1:g.88923184C>A	GRCh37
NC_000016.8:g.87450685C>A	NCBI36
NG_008667.1:g.5191G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.102G>T (GALNS) MANE Select	ENSP00000268695.5:p.Leu34=
ENST00000268695.9:c.102G>T (GALNS)	ENSP00000268695.5:p.Leu34=
ENST00000564365.5:c.-398+530C>A (TRAPPC2L)	ENSP00000455447.1:n.-398+530C>A
ENST00000565364.1:n.67G>T (GALNS)
ENST00000567525.5:c.51G>T (GALNS)	ENSP00000454484.1:p.Leu17=
ENST00000568311.1:c.102G>T (GALNS)	ENSP00000455006.1:p.Leu34=
ENST00000568613.5:c.51G>T (GALNS)	ENSP00000457921.1:p.Leu17=
ENST00000569433.1:c.102G>T (GALNS)	ENSP00000456884.1:p.Leu34=
NM_000512.4:c.102G>T (GALNS)	NP_000503.1:p.Leu34=
XM_005256301.2:c.102G>T (GALNS)	XP_005256358.1:p.Leu34=
XM_005256302.1:c.-51G>T (GALNS)	XP_005256359.1:n.-51G>T
XM_011522982.1:c.-51G>T (GALNS)	XP_011521284.1:n.-51G>T
XM_011522984.1:c.-51G>T (GALNS)	XP_011521286.1:n.-51G>T
NM_001323543.1:c.-330G>T (GALNS)	NP_001310472.1:n.-330G>T
NM_001323544.1:c.-51G>T (GALNS)	NP_001310473.1:n.-51G>T
NR_134671.1:n.27+530C>A (TRAPPC2L)
XM_005256301.3:c.102G>T (GALNS)	XP_005256358.1:p.Leu34=
XM_011522982.2:c.-51G>T (GALNS)	XP_011521284.1:n.-51G>T
XM_017023113.1:c.-330G>T (GALNS)	XP_016878602.1:n.-330G>T
NM_000512.5:c.102G>T (GALNS) MANE Select	NP_000503.1:p.Leu34=
NM_001323543.2:c.-330G>T (GALNS)	NP_001310472.1:n.-330G>T
NM_001323544.2:c.-51G>T (GALNS)	NP_001310473.1:n.-51G>T
NR_134671.2:n.27+530C>A (TRAPPC2L)