Canonical Allele Identifier: CA319966

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 161106
• ClinVar RCV Id: RCV000195605 ; RCV000202453
• dbSNP Id: rs146579504
• ExAC: 20:45354366 C / T
• gnomAD v2: 20-45354366-C-T
• gnomAD v3: 20-46725727-C-T
• gnomAD v4: 20-46725727-C-T
• MyVariant Identifiers: chr20:g.45354366C>T (hg19) ; chr20:g.46725727C>T (hg38)
• PubMed: PMID:19781076 ; PMID:25392904

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725727C>T , CM000682.2:g.46725727C>T	GRCh38
NC_000020.10:g.45354366C>T , CM000682.1:g.45354366C>T	GRCh37
NC_000020.9:g.44787773C>T	NCBI36
NG_016284.1:g.21088C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359271.4:c.691C>T MANE Select	ENSP00000352216.2:p.Arg231Trp
ENST00000359271.3:c.691C>T	ENSP00000352216.2:p.Arg231Trp
NM_030777.3:c.691C>T	NP_110404.1:p.Arg231Trp
XM_011529060.1:c.754C>T	XP_011527362.1:p.Arg252Trp
XM_011529061.1:c.700C>T	XP_011527363.1:p.Arg234Trp
XM_011529062.1:c.754C>T	XP_011527364.1:p.Arg252Trp
XM_011529063.1:c.754C>T	XP_011527365.1:p.Arg252Trp
XM_011529064.1:c.754C>T	XP_011527366.1:p.Arg252Trp
XM_011529065.1:c.754C>T	XP_011527367.1:p.Arg252Trp
XR_936641.1:n.890C>T
XM_011529060.2:c.754C>T	XP_011527362.1:p.Arg252Trp
XM_011529061.2:c.700C>T	XP_011527363.1:p.Arg234Trp
XM_011529062.2:c.754C>T	XP_011527364.1:p.Arg252Trp
XM_011529063.2:c.754C>T	XP_011527365.1:p.Arg252Trp
XM_011529064.2:c.754C>T	XP_011527366.1:p.Arg252Trp
XM_011529065.2:c.754C>T	XP_011527367.1:p.Arg252Trp
XM_017028087.2:c.691C>T	XP_016883576.1:p.Arg231Trp
XR_936641.2:n.877C>T
NM_030777.4:c.691C>T MANE Select	NP_110404.1:p.Arg231Trp