Canonical Allele Identifier: CA409266430

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 626892
• ClinVar RCV Id: RCV001592952 ; RCV001855992
• dbSNP Id: rs1252274574
• gnomAD v2: 20-45353817-G-C
• gnomAD v3: 20-46725178-G-C
• gnomAD v4: 20-46725178-G-C
• MyVariant Identifiers: chr20:g.45353817G>C (hg19) ; chr20:g.46725178G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725178G>C , CM000682.2:g.46725178G>C	GRCh38
NC_000020.10:g.45353817G>C , CM000682.1:g.45353817G>C	GRCh37
NC_000020.9:g.44787224G>C	NCBI36
NG_016284.1:g.20539G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000359271.4:c.142G>C MANE Select	ENSP00000352216.2:p.Glu48Gln
ENST00000359271.3:c.142G>C	ENSP00000352216.2:p.Glu48Gln
ENST00000611837.1:n.294G>C
NM_030777.3:c.142G>C	NP_110404.1:p.Glu48Gln
XM_011529060.1:c.205G>C	XP_011527362.1:p.Glu69Gln
XM_011529061.1:c.151G>C	XP_011527363.1:p.Glu51Gln
XM_011529062.1:c.205G>C	XP_011527364.1:p.Glu69Gln
XM_011529063.1:c.205G>C	XP_011527365.1:p.Glu69Gln
XM_011529064.1:c.205G>C	XP_011527366.1:p.Glu69Gln
XM_011529065.1:c.205G>C	XP_011527367.1:p.Glu69Gln
XR_936641.1:n.341G>C
XM_011529060.2:c.205G>C	XP_011527362.1:p.Glu69Gln
XM_011529061.2:c.151G>C	XP_011527363.1:p.Glu51Gln
XM_011529062.2:c.205G>C	XP_011527364.1:p.Glu69Gln
XM_011529063.2:c.205G>C	XP_011527365.1:p.Glu69Gln
XM_011529064.2:c.205G>C	XP_011527366.1:p.Glu69Gln
XM_011529065.2:c.205G>C	XP_011527367.1:p.Glu69Gln
XM_017028087.2:c.142G>C	XP_016883576.1:p.Glu48Gln
XR_936641.2:n.328G>C
NM_030777.4:c.142G>C MANE Select	NP_110404.1:p.Glu48Gln