Canonical Allele Identifier: CA397101131

Gene: GALNS TRAPPC2L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856783T>G , CM000678.2:g.88856783T>G	GRCh38
NC_000016.9:g.88923191T>G , CM000678.1:g.88923191T>G	GRCh37
NC_000016.8:g.87450692T>G	NCBI36
NG_008667.1:g.5184A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.95A>C (GALNS) MANE Select	NP_000503.1:p.Asn32Thr
ENST00000268695.10:c.95A>C (GALNS) MANE Select	ENSP00000268695.5:p.Asn32Thr
NM_000512.4:c.95A>C (GALNS)	NP_000503.1:p.Asn32Thr
NM_001323543.1:c.-337A>C (GALNS)	NP_001310472.1:n.-337A>C
NM_001323543.2:c.-337A>C (GALNS)	NP_001310472.1:n.-337A>C
NM_001323544.1:c.-58A>C (GALNS)	NP_001310473.1:n.-58A>C
NM_001323544.2:c.-58A>C (GALNS)	NP_001310473.1:n.-58A>C
NR_134671.1:n.27+537T>G (TRAPPC2L)
NR_134671.2:n.27+537T>G (TRAPPC2L)
ENST00000268695.9:c.95A>C (GALNS)	ENSP00000268695.5:p.Asn32Thr
ENST00000564365.5:c.-398+537T>G (TRAPPC2L)	ENSP00000455447.1:n.-398+537T>G
ENST00000565364.1:n.60A>C (GALNS)
ENST00000567525.5:c.44A>C (GALNS)	ENSP00000454484.1:p.Asn15Thr
ENST00000568311.1:c.95A>C (GALNS)	ENSP00000455006.1:p.Asn32Thr
ENST00000568613.5:c.44A>C (GALNS)	ENSP00000457921.1:p.Asn15Thr
ENST00000569433.1:c.95A>C (GALNS)	ENSP00000456884.1:p.Asn32Thr
XM_005256301.2:c.95A>C (GALNS)	XP_005256358.1:p.Asn32Thr
XM_005256301.3:c.95A>C (GALNS)	XP_005256358.1:p.Asn32Thr
XM_005256302.1:c.-58A>C (GALNS)	XP_005256359.1:n.-58A>C
XM_011522982.1:c.-58A>C (GALNS)	XP_011521284.1:n.-58A>C
XM_011522982.2:c.-58A>C (GALNS)	XP_011521284.1:n.-58A>C
XM_011522984.1:c.-58A>C (GALNS)	XP_011521286.1:n.-58A>C
XM_017023113.1:c.-337A>C (GALNS)	XP_016878602.1:n.-337A>C