Canonical Allele Identifier: CA397102079

Gene: GALNS TRAPPC2L

Linked Data

• gnomAD v4: 16-88856844-G-T
• MyVariant Identifiers: chr16:g.88923252G>T (hg19) ; chr16:g.88856844G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856844G>T , CM000678.2:g.88856844G>T	GRCh38
NC_000016.9:g.88923252G>T , CM000678.1:g.88923252G>T	GRCh37
NC_000016.8:g.87450753G>T	NCBI36
NG_008667.1:g.5123C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.34C>A (GALNS) MANE Select	ENSP00000268695.5:p.Gln12Lys
ENST00000268695.9:c.34C>A (GALNS)	ENSP00000268695.5:p.Gln12Lys
ENST00000564365.5:c.-398+598G>T (TRAPPC2L)	ENSP00000455447.1:n.-398+598G>T
ENST00000568311.1:c.34C>A (GALNS)	ENSP00000455006.1:p.Gln12Lys
ENST00000569433.1:c.34C>A (GALNS)	ENSP00000456884.1:p.Gln12Lys
NM_000512.4:c.34C>A (GALNS)	NP_000503.1:p.Gln12Lys
XM_005256301.2:c.34C>A (GALNS)	XP_005256358.1:p.Gln12Lys
NM_001323543.1:c.-398C>A (GALNS)	NP_001310472.1:n.-398C>A
NM_001323544.1:c.-119C>A (GALNS)	NP_001310473.1:n.-119C>A
NR_134671.1:n.27+598G>T (TRAPPC2L)
XM_005256301.3:c.34C>A (GALNS)	XP_005256358.1:p.Gln12Lys
XM_017023113.1:c.-398C>A (GALNS)	XP_016878602.1:n.-398C>A
NM_000512.5:c.34C>A (GALNS) MANE Select	NP_000503.1:p.Gln12Lys
NM_001323543.2:c.-398C>A (GALNS)	NP_001310472.1:n.-398C>A
NM_001323544.2:c.-119C>A (GALNS)	NP_001310473.1:n.-119C>A
NR_134671.2:n.27+598G>T (TRAPPC2L)