Canonical Allele Identifier: CA497091461
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Linked Data

ClinVar Variation Id: 2754825
ClinVar RCV Id: RCV003495812
MyVariant Identifiers: chr16:g.88923265C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856857C>T , CM000678.2:g.88856857C>T GRCh38
NC_000016.9:g.88923265C>T , CM000678.1:g.88923265C>T GRCh37
NC_000016.8:g.87450766C>T NCBI36
NG_008667.1:g.5110G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.21G>A (GALNS) MANE Select ENSP00000268695.5:p.Ala7=
ENST00000268695.9:c.21G>A (GALNS) ENSP00000268695.5:p.Ala7=
ENST00000564365.5:c.-398+611C>T (TRAPPC2L) ENSP00000455447.1:n.-398+611C>T
ENST00000568311.1:c.21G>A (GALNS) ENSP00000455006.1:p.Ala7=
ENST00000569433.1:c.21G>A (GALNS) ENSP00000456884.1:p.Ala7=
NM_000512.4:c.21G>A (GALNS) NP_000503.1:p.Ala7=
XM_005256301.2:c.21G>A (GALNS) XP_005256358.1:p.Ala7=
NM_001323543.1:c.-411G>A (GALNS) NP_001310472.1:n.-411G>A
NM_001323544.1:c.-132G>A (GALNS) NP_001310473.1:n.-132G>A
NR_134671.1:n.27+611C>T (TRAPPC2L)
XM_005256301.3:c.21G>A (GALNS) XP_005256358.1:p.Ala7=
XM_017023113.1:c.-411G>A (GALNS) XP_016878602.1:n.-411G>A
NM_000512.5:c.21G>A (GALNS) MANE Select NP_000503.1:p.Ala7=
NM_001323543.2:c.-411G>A (GALNS) NP_001310472.1:n.-411G>A
NM_001323544.2:c.-132G>A (GALNS) NP_001310473.1:n.-132G>A
NR_134671.2:n.27+611C>T (TRAPPC2L)