Canonical Allele Identifier: CA10653172

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 338589
• ClinVar RCV Id: RCV000302783
• dbSNP Id: rs886056724
• gnomAD v2: 20-45353746-A-T
• gnomAD v4: 20-46725107-A-T
• MyVariant Identifiers: chr20:g.45353746A>T (hg19) ; chr20:g.46725107A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725107A>T , CM000682.2:g.46725107A>T	GRCh38
NC_000020.10:g.45353746A>T , CM000682.1:g.45353746A>T	GRCh37
NC_000020.9:g.44787153A>T	NCBI36
NG_016284.1:g.20468A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.71A>T MANE Select	ENSP00000352216.2:p.Tyr24Phe
ENST00000359271.3:c.71A>T	ENSP00000352216.2:p.Tyr24Phe
ENST00000611837.1:n.223A>T
NM_030777.3:c.71A>T	NP_110404.1:p.Tyr24Phe
XM_011529060.1:c.134A>T	XP_011527362.1:p.Tyr45Phe
XM_011529061.1:c.80A>T	XP_011527363.1:p.Tyr27Phe
XM_011529062.1:c.134A>T	XP_011527364.1:p.Tyr45Phe
XM_011529063.1:c.134A>T	XP_011527365.1:p.Tyr45Phe
XM_011529064.1:c.134A>T	XP_011527366.1:p.Tyr45Phe
XM_011529065.1:c.134A>T	XP_011527367.1:p.Tyr45Phe
XR_936641.1:n.270A>T
XM_011529060.2:c.134A>T	XP_011527362.1:p.Tyr45Phe
XM_011529061.2:c.80A>T	XP_011527363.1:p.Tyr27Phe
XM_011529062.2:c.134A>T	XP_011527364.1:p.Tyr45Phe
XM_011529063.2:c.134A>T	XP_011527365.1:p.Tyr45Phe
XM_011529064.2:c.134A>T	XP_011527366.1:p.Tyr45Phe
XM_011529065.2:c.134A>T	XP_011527367.1:p.Tyr45Phe
XM_017028087.2:c.71A>T	XP_016883576.1:p.Tyr24Phe
XR_936641.2:n.257A>T
NM_030777.4:c.71A>T MANE Select	NP_110404.1:p.Tyr24Phe