Canonical Allele Identifier: CA3526249

Gene: GALNT10 SAP30L-AS1

Linked Data

• ClinVar Variation Id: 2220735
• ClinVar RCV Id: RCV004083786
• dbSNP Id: rs777623511
• ExAC: 5:153795374 G / A
• gnomAD v2: 5-153795374-G-A
• gnomAD v3: 5-154415814-G-A
• gnomAD v4: 5-154415814-G-A
• MyVariant Identifiers: chr5:g.153795374G>A (hg19) ; chr5:g.154415814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154415814G>A , CM000667.2:g.154415814G>A	GRCh38
NC_000005.9:g.153795374G>A , CM000667.1:g.153795374G>A	GRCh37
NC_000005.8:g.153775567G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297107.11:c.1535G>A (GALNT10) MANE Select	ENSP00000297107.6:p.Arg512Gln
ENST00000297107.10:c.1535G>A (GALNT10)	ENSP00000297107.6:p.Arg512Gln
ENST00000377661.2:c.1349G>A (GALNT10)	ENSP00000366889.2:p.Arg450Gln
ENST00000517958.1:n.811G>A (GALNT10)
ENST00000520647.5:c.*1301G>A (GALNT10)	ENSP00000428573.1:n.*1301G>A
NM_198321.3:c.1535G>A (GALNT10)	NP_938080.1:p.Arg512Gln
NR_037897.1:n.205-22800C>T (SAP30L-AS1)
NM_198321.4:c.1535G>A (GALNT10) MANE Select	NP_938080.1:p.Arg512Gln