Canonical Allele Identifier: CA286411211

Gene: GALNS TRAPPC2L

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.34C>T (GALNS) MANE Select	NP_000503.1:p.Gln12Ter
ENST00000268695.10:c.34C>T (GALNS) MANE Select	ENSP00000268695.5:p.Gln12Ter
NM_000512.4:c.34C>T (GALNS)	NP_000503.1:p.Gln12Ter
NM_001323543.1:c.-398C>T (GALNS)	NP_001310472.1:n.-398C>T
NM_001323543.2:c.-398C>T (GALNS)	NP_001310472.1:n.-398C>T
NM_001323544.1:c.-119C>T (GALNS)	NP_001310473.1:n.-119C>T
NM_001323544.2:c.-119C>T (GALNS)	NP_001310473.1:n.-119C>T
NR_134671.1:n.27+598G>A (TRAPPC2L)
NR_134671.2:n.27+598G>A (TRAPPC2L)
ENST00000268695.9:c.34C>T (GALNS)	ENSP00000268695.5:p.Gln12Ter
ENST00000564365.5:c.-398+598G>A (TRAPPC2L)	ENSP00000455447.1:n.-398+598G>A
ENST00000568311.1:c.34C>T (GALNS)	ENSP00000455006.1:p.Gln12Ter
ENST00000569433.1:c.34C>T (GALNS)	ENSP00000456884.1:p.Gln12Ter
XM_005256301.2:c.34C>T (GALNS)	XP_005256358.1:p.Gln12Ter
XM_005256301.3:c.34C>T (GALNS)	XP_005256358.1:p.Gln12Ter
XM_017023113.1:c.-398C>T (GALNS)	XP_016878602.1:n.-398C>T