Canonical Allele Identifier: CA409267601

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 1753889
• ClinVar RCV Id: RCV002364124
• MyVariant Identifiers: chr20:g.45354324T>C (hg19) ; chr20:g.46725685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725685T>C , CM000682.2:g.46725685T>C	GRCh38
NC_000020.10:g.45354324T>C , CM000682.1:g.45354324T>C	GRCh37
NC_000020.9:g.44787731T>C	NCBI36
NG_016284.1:g.21046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.649T>C MANE Select	ENSP00000352216.2:p.Ser217Pro
ENST00000359271.3:c.649T>C	ENSP00000352216.2:p.Ser217Pro
NM_030777.3:c.649T>C	NP_110404.1:p.Ser217Pro
XM_011529060.1:c.712T>C	XP_011527362.1:p.Ser238Pro
XM_011529061.1:c.658T>C	XP_011527363.1:p.Ser220Pro
XM_011529062.1:c.712T>C	XP_011527364.1:p.Ser238Pro
XM_011529063.1:c.712T>C	XP_011527365.1:p.Ser238Pro
XM_011529064.1:c.712T>C	XP_011527366.1:p.Ser238Pro
XM_011529065.1:c.712T>C	XP_011527367.1:p.Ser238Pro
XR_936641.1:n.848T>C
XM_011529060.2:c.712T>C	XP_011527362.1:p.Ser238Pro
XM_011529061.2:c.658T>C	XP_011527363.1:p.Ser220Pro
XM_011529062.2:c.712T>C	XP_011527364.1:p.Ser238Pro
XM_011529063.2:c.712T>C	XP_011527365.1:p.Ser238Pro
XM_011529064.2:c.712T>C	XP_011527366.1:p.Ser238Pro
XM_011529065.2:c.712T>C	XP_011527367.1:p.Ser238Pro
XM_017028087.2:c.649T>C	XP_016883576.1:p.Ser217Pro
XR_936641.2:n.835T>C
NM_030777.4:c.649T>C MANE Select	NP_110404.1:p.Ser217Pro