Canonical Allele Identifier: CA2634897939

Gene: GALNS TRAPPC2L

Linked Data

• gnomAD v4: 16-88856505-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856505A>C , CM000678.2:g.88856505A>C	GRCh38
NC_000016.9:g.88922913A>C , CM000678.1:g.88922913A>C	GRCh37
NC_000016.8:g.87450414A>C	NCBI36
NG_008667.1:g.5462T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.120+253T>G (GALNS) MANE Select	ENSP00000268695.5:n.120+253T>G
ENST00000268695.9:c.120+253T>G (GALNS)	ENSP00000268695.5:n.120+253T>G
ENST00000562831.1:c.-27T>G (GALNS)	ENSP00000455174.1:n.-27T>G
ENST00000564365.5:c.-398+259A>C (TRAPPC2L)	ENSP00000455447.1:n.-398+259A>C
ENST00000565364.1:n.85+253T>G (GALNS)
ENST00000567525.5:c.69+253T>G (GALNS)	ENSP00000454484.1:n.69+253T>G
ENST00000568311.1:c.121-204T>G (GALNS)	ENSP00000455006.1:n.121-204T>G
ENST00000568613.5:c.69+253T>G (GALNS)	ENSP00000457921.1:n.69+253T>G
ENST00000569433.1:c.121-204T>G (GALNS)	ENSP00000456884.1:n.121-204T>G
NM_000512.4:c.120+253T>G (GALNS)	NP_000503.1:n.120+253T>G
XM_005256301.2:c.120+253T>G (GALNS)	XP_005256358.1:n.120+253T>G
XM_005256302.1:c.-33+253T>G (GALNS)	XP_005256359.1:n.-33+253T>G
XM_011522982.1:c.-33+253T>G (GALNS)	XP_011521284.1:n.-33+253T>G
XM_011522984.1:c.-33+253T>G (GALNS)	XP_011521286.1:n.-33+253T>G
XR_933884.1:n.75T>G
NM_001323543.1:c.-312+253T>G (GALNS)	NP_001310472.1:n.-312+253T>G
NM_001323544.1:c.-33+253T>G (GALNS)	NP_001310473.1:n.-33+253T>G
NR_134671.1:n.27+259A>C (TRAPPC2L)
XM_005256301.3:c.120+253T>G (GALNS)	XP_005256358.1:n.120+253T>G
XM_011522982.2:c.-33+253T>G (GALNS)	XP_011521284.1:n.-33+253T>G
XM_017023113.1:c.-312+253T>G (GALNS)	XP_016878602.1:n.-312+253T>G
XR_933884.2:n.77T>G
NM_000512.5:c.120+253T>G (GALNS) MANE Select	NP_000503.1:n.120+253T>G
NM_001323543.2:c.-312+253T>G (GALNS)	NP_001310472.1:n.-312+253T>G
NM_001323544.2:c.-33+253T>G (GALNS)	NP_001310473.1:n.-33+253T>G
NR_134671.2:n.27+259A>C (TRAPPC2L)