Canonical Allele Identifier: CA2241338104

Gene: GALNS TRAPPC2L

Genomic Alleles

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

Transcript Alleles

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