Canonical Allele Identifier: CA497091443

Gene: GALNS TRAPPC2L

Linked Data

• gnomAD v4: 16-88856854-C-A
• MyVariant Identifiers: chr16:g.88923262C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856854C>A , CM000678.2:g.88856854C>A	GRCh38
NC_000016.9:g.88923262C>A , CM000678.1:g.88923262C>A	GRCh37
NC_000016.8:g.87450763C>A	NCBI36
NG_008667.1:g.5113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.24G>T (GALNS) MANE Select	ENSP00000268695.5:p.Thr8=
ENST00000268695.9:c.24G>T (GALNS)	ENSP00000268695.5:p.Thr8=
ENST00000564365.5:c.-398+608C>A (TRAPPC2L)	ENSP00000455447.1:n.-398+608C>A
ENST00000568311.1:c.24G>T (GALNS)	ENSP00000455006.1:p.Thr8=
ENST00000569433.1:c.24G>T (GALNS)	ENSP00000456884.1:p.Thr8=
NM_000512.4:c.24G>T (GALNS)	NP_000503.1:p.Thr8=
XM_005256301.2:c.24G>T (GALNS)	XP_005256358.1:p.Thr8=
NM_001323543.1:c.-408G>T (GALNS)	NP_001310472.1:n.-408G>T
NM_001323544.1:c.-129G>T (GALNS)	NP_001310473.1:n.-129G>T
NR_134671.1:n.27+608C>A (TRAPPC2L)
XM_005256301.3:c.24G>T (GALNS)	XP_005256358.1:p.Thr8=
XM_017023113.1:c.-408G>T (GALNS)	XP_016878602.1:n.-408G>T
NM_000512.5:c.24G>T (GALNS) MANE Select	NP_000503.1:p.Thr8=
NM_001323543.2:c.-408G>T (GALNS)	NP_001310472.1:n.-408G>T
NM_001323544.2:c.-129G>T (GALNS)	NP_001310473.1:n.-129G>T
NR_134671.2:n.27+608C>A (TRAPPC2L)