Canonical Allele Identifier: CA497091477

Gene: GALNS TRAPPC2L

Linked Data

• gnomAD v4: 16-88856860-C-G
• MyVariant Identifiers: chr16:g.88923268C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856860C>G , CM000678.2:g.88856860C>G	GRCh38
NC_000016.9:g.88923268C>G , CM000678.1:g.88923268C>G	GRCh37
NC_000016.8:g.87450769C>G	NCBI36
NG_008667.1:g.5107G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.18G>C (GALNS) MANE Select	ENSP00000268695.5:p.Ala6=
ENST00000268695.9:c.18G>C (GALNS)	ENSP00000268695.5:p.Ala6=
ENST00000564365.5:c.-398+614C>G (TRAPPC2L)	ENSP00000455447.1:n.-398+614C>G
ENST00000568311.1:c.18G>C (GALNS)	ENSP00000455006.1:p.Ala6=
ENST00000569433.1:c.18G>C (GALNS)	ENSP00000456884.1:p.Ala6=
NM_000512.4:c.18G>C (GALNS)	NP_000503.1:p.Ala6=
XM_005256301.2:c.18G>C (GALNS)	XP_005256358.1:p.Ala6=
NM_001323543.1:c.-414G>C (GALNS)	NP_001310472.1:n.-414G>C
NM_001323544.1:c.-135G>C (GALNS)	NP_001310473.1:n.-135G>C
NR_134671.1:n.27+614C>G (TRAPPC2L)
XM_005256301.3:c.18G>C (GALNS)	XP_005256358.1:p.Ala6=
XM_017023113.1:c.-414G>C (GALNS)	XP_016878602.1:n.-414G>C
NM_000512.5:c.18G>C (GALNS) MANE Select	NP_000503.1:p.Ala6=
NM_001323543.2:c.-414G>C (GALNS)	NP_001310472.1:n.-414G>C
NM_001323544.2:c.-135G>C (GALNS)	NP_001310473.1:n.-135G>C
NR_134671.2:n.27+614C>G (TRAPPC2L)