Canonical Allele Identifier: CA725631529

Gene: GALNS TRAPPC2L

Linked Data

• dbSNP Id: rs1460993209
• gnomAD v4: 16-88856510-T-C
• MyVariant Identifiers: chr16:g.88922918T>C (hg19) ; chr16:g.88856510T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856510T>C , CM000678.2:g.88856510T>C	GRCh38
NC_000016.9:g.88922918T>C , CM000678.1:g.88922918T>C	GRCh37
NC_000016.8:g.87450419T>C	NCBI36
NG_008667.1:g.5457A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.120+248A>G (GALNS) MANE Select	ENSP00000268695.5:n.120+248A>G
ENST00000268695.9:c.120+248A>G (GALNS)	ENSP00000268695.5:n.120+248A>G
ENST00000562831.1:c.-32A>G (GALNS)	ENSP00000455174.1:n.-32A>G
ENST00000564365.5:c.-398+264T>C (TRAPPC2L)	ENSP00000455447.1:n.-398+264T>C
ENST00000565364.1:n.85+248A>G (GALNS)
ENST00000567525.5:c.69+248A>G (GALNS)	ENSP00000454484.1:n.69+248A>G
ENST00000568311.1:c.121-209A>G (GALNS)	ENSP00000455006.1:n.121-209A>G
ENST00000568613.5:c.69+248A>G (GALNS)	ENSP00000457921.1:n.69+248A>G
ENST00000569433.1:c.121-209A>G (GALNS)	ENSP00000456884.1:n.121-209A>G
NM_000512.4:c.120+248A>G (GALNS)	NP_000503.1:n.120+248A>G
XM_005256301.2:c.120+248A>G (GALNS)	XP_005256358.1:n.120+248A>G
XM_005256302.1:c.-33+248A>G (GALNS)	XP_005256359.1:n.-33+248A>G
XM_011522982.1:c.-33+248A>G (GALNS)	XP_011521284.1:n.-33+248A>G
XM_011522984.1:c.-33+248A>G (GALNS)	XP_011521286.1:n.-33+248A>G
XR_933884.1:n.70A>G
NM_001323543.1:c.-312+248A>G (GALNS)	NP_001310472.1:n.-312+248A>G
NM_001323544.1:c.-33+248A>G (GALNS)	NP_001310473.1:n.-33+248A>G
NR_134671.1:n.27+264T>C (TRAPPC2L)
XM_005256301.3:c.120+248A>G (GALNS)	XP_005256358.1:n.120+248A>G
XM_011522982.2:c.-33+248A>G (GALNS)	XP_011521284.1:n.-33+248A>G
XM_017023113.1:c.-312+248A>G (GALNS)	XP_016878602.1:n.-312+248A>G
XR_933884.2:n.72A>G
NM_000512.5:c.120+248A>G (GALNS) MANE Select	NP_000503.1:n.120+248A>G
NM_001323543.2:c.-312+248A>G (GALNS)	NP_001310472.1:n.-312+248A>G
NM_001323544.2:c.-33+248A>G (GALNS)	NP_001310473.1:n.-33+248A>G
NR_134671.2:n.27+264T>C (TRAPPC2L)