Canonical Allele Identifier: CA320752

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 213738
• ClinVar RCV Id: RCV000196340 ; RCV000795533
• dbSNP Id: rs771091234
• ExAC: 20:45355601 A / C
• gnomAD v2: 20-45355601-A-C
• gnomAD v4: 20-46726962-A-C
• MyVariant Identifiers: chr20:g.45355601A>C (hg19) ; chr20:g.46726962A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46726962A>C , CM000682.2:g.46726962A>C	GRCh38
NC_000020.10:g.45355601A>C , CM000682.1:g.45355601A>C	GRCh37
NC_000020.9:g.44789008A>C	NCBI36
NG_016284.1:g.22323A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.1387A>C MANE Select	ENSP00000352216.2:p.Ser463Arg
ENST00000359271.3:c.1387A>C	ENSP00000352216.2:p.Ser463Arg
NM_030777.3:c.1387A>C	NP_110404.1:p.Ser463Arg
XM_011529060.1:c.1450A>C	XP_011527362.1:p.Ser484Arg
XM_011529061.1:c.1396A>C	XP_011527363.1:p.Ser466Arg
XM_011529062.1:c.1499A>C	XP_011527364.1:p.Gln500Pro
XM_011529063.1:c.1450A>C	XP_011527365.1:p.Ser484Arg
XM_011529064.1:c.1499A>C	XP_011527366.1:p.Gln500Pro
XM_011529065.1:c.1450A>C	XP_011527367.1:p.Ser484Arg
XR_936641.1:n.1635A>C
XM_011529060.2:c.1450A>C	XP_011527362.1:p.Ser484Arg
XM_011529061.2:c.1396A>C	XP_011527363.1:p.Ser466Arg
XM_011529062.2:c.1499A>C	XP_011527364.1:p.Gln500Pro
XM_011529063.2:c.1450A>C	XP_011527365.1:p.Ser484Arg
XM_011529064.2:c.1499A>C	XP_011527366.1:p.Gln500Pro
XM_011529065.2:c.1450A>C	XP_011527367.1:p.Ser484Arg
XM_017028087.2:c.1387A>C	XP_016883576.1:p.Ser463Arg
XR_936641.2:n.1622A>C
NM_030777.4:c.1387A>C MANE Select	NP_110404.1:p.Ser463Arg