Canonical Allele Identifier: CA9892003

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 1445640
• ClinVar RCV Id: RCV001985158
• dbSNP Id: rs761874387
• ExAC: 20:45354264 G / T
• gnomAD v2: 20-45354264-G-T
• gnomAD v3: 20-46725625-G-T
• gnomAD v4: 20-46725625-G-T
• MyVariant Identifiers: chr20:g.45354264G>T (hg19) ; chr20:g.46725625G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725625G>T , CM000682.2:g.46725625G>T	GRCh38
NC_000020.10:g.45354264G>T , CM000682.1:g.45354264G>T	GRCh37
NC_000020.9:g.44787671G>T	NCBI36
NG_016284.1:g.20986G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.589G>T MANE Select	ENSP00000352216.2:p.Asp197Tyr
ENST00000359271.3:c.589G>T	ENSP00000352216.2:p.Asp197Tyr
NM_030777.3:c.589G>T	NP_110404.1:p.Asp197Tyr
XM_011529060.1:c.652G>T	XP_011527362.1:p.Asp218Tyr
XM_011529061.1:c.598G>T	XP_011527363.1:p.Asp200Tyr
XM_011529062.1:c.652G>T	XP_011527364.1:p.Asp218Tyr
XM_011529063.1:c.652G>T	XP_011527365.1:p.Asp218Tyr
XM_011529064.1:c.652G>T	XP_011527366.1:p.Asp218Tyr
XM_011529065.1:c.652G>T	XP_011527367.1:p.Asp218Tyr
XR_936641.1:n.788G>T
XM_011529060.2:c.652G>T	XP_011527362.1:p.Asp218Tyr
XM_011529061.2:c.598G>T	XP_011527363.1:p.Asp200Tyr
XM_011529062.2:c.652G>T	XP_011527364.1:p.Asp218Tyr
XM_011529063.2:c.652G>T	XP_011527365.1:p.Asp218Tyr
XM_011529064.2:c.652G>T	XP_011527366.1:p.Asp218Tyr
XM_011529065.2:c.652G>T	XP_011527367.1:p.Asp218Tyr
XM_017028087.2:c.589G>T	XP_016883576.1:p.Asp197Tyr
XR_936641.2:n.775G>T
NM_030777.4:c.589G>T MANE Select	NP_110404.1:p.Asp197Tyr