Canonical Allele Identifier: CA397102121

Gene: GALNS TRAPPC2L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856849C>T , CM000678.2:g.88856849C>T	GRCh38
NC_000016.9:g.88923257C>T , CM000678.1:g.88923257C>T	GRCh37
NC_000016.8:g.87450758C>T	NCBI36
NG_008667.1:g.5118G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.29G>A (GALNS) MANE Select	NP_000503.1:p.Trp10Ter
ENST00000268695.10:c.29G>A (GALNS) MANE Select	ENSP00000268695.5:p.Trp10Ter
NM_000512.4:c.29G>A (GALNS)	NP_000503.1:p.Trp10Ter
NM_001323543.1:c.-403G>A (GALNS)	NP_001310472.1:n.-403G>A
NM_001323543.2:c.-403G>A (GALNS)	NP_001310472.1:n.-403G>A
NM_001323544.1:c.-124G>A (GALNS)	NP_001310473.1:n.-124G>A
NM_001323544.2:c.-124G>A (GALNS)	NP_001310473.1:n.-124G>A
NR_134671.1:n.27+603C>T (TRAPPC2L)
NR_134671.2:n.27+603C>T (TRAPPC2L)
ENST00000268695.9:c.29G>A (GALNS)	ENSP00000268695.5:p.Trp10Ter
ENST00000564365.5:c.-398+603C>T (TRAPPC2L)	ENSP00000455447.1:n.-398+603C>T
ENST00000568311.1:c.29G>A (GALNS)	ENSP00000455006.1:p.Trp10Ter
ENST00000569433.1:c.29G>A (GALNS)	ENSP00000456884.1:p.Trp10Ter
XM_005256301.2:c.29G>A (GALNS)	XP_005256358.1:p.Trp10Ter
XM_005256301.3:c.29G>A (GALNS)	XP_005256358.1:p.Trp10Ter
XM_017023113.1:c.-403G>A (GALNS)	XP_016878602.1:n.-403G>A