Canonical Allele Identifier: CA497091440

Gene: GALNS TRAPPC2L

Linked Data

• MyVariant Identifiers: chr16:g.88923261T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856853T>G , CM000678.2:g.88856853T>G	GRCh38
NC_000016.9:g.88923261T>G , CM000678.1:g.88923261T>G	GRCh37
NC_000016.8:g.87450762T>G	NCBI36
NG_008667.1:g.5114A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.25A>C (GALNS) MANE Select	ENSP00000268695.5:p.Arg9=
ENST00000268695.9:c.25A>C (GALNS)	ENSP00000268695.5:p.Arg9=
ENST00000564365.5:c.-398+607T>G (TRAPPC2L)	ENSP00000455447.1:n.-398+607T>G
ENST00000568311.1:c.25A>C (GALNS)	ENSP00000455006.1:p.Arg9=
ENST00000569433.1:c.25A>C (GALNS)	ENSP00000456884.1:p.Arg9=
NM_000512.4:c.25A>C (GALNS)	NP_000503.1:p.Arg9=
XM_005256301.2:c.25A>C (GALNS)	XP_005256358.1:p.Arg9=
NM_001323543.1:c.-407A>C (GALNS)	NP_001310472.1:n.-407A>C
NM_001323544.1:c.-128A>C (GALNS)	NP_001310473.1:n.-128A>C
NR_134671.1:n.27+607T>G (TRAPPC2L)
XM_005256301.3:c.25A>C (GALNS)	XP_005256358.1:p.Arg9=
XM_017023113.1:c.-407A>C (GALNS)	XP_016878602.1:n.-407A>C
NM_000512.5:c.25A>C (GALNS) MANE Select	NP_000503.1:p.Arg9=
NM_001323543.2:c.-407A>C (GALNS)	NP_001310472.1:n.-407A>C
NM_001323544.2:c.-128A>C (GALNS)	NP_001310473.1:n.-128A>C
NR_134671.2:n.27+607T>G (TRAPPC2L)