Canonical Allele Identifier: CA9891988

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 510949
• ClinVar RCV Id: RCV000601295 ; RCV002315915 ; RCV002531544 ; RCV003892142
• dbSNP Id: rs540023880
• ExAC: 20:45354179 C / T
• gnomAD v2: 20-45354179-C-T
• gnomAD v3: 20-46725540-C-T
• gnomAD v4: 20-46725540-C-T
• MyVariant Identifiers: chr20:g.45354179C>T (hg19) ; chr20:g.46725540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725540C>T , CM000682.2:g.46725540C>T	GRCh38
NC_000020.10:g.45354179C>T , CM000682.1:g.45354179C>T	GRCh37
NC_000020.9:g.44787586C>T	NCBI36
NG_016284.1:g.20901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.504C>T MANE Select	ENSP00000352216.2:p.Phe168=
ENST00000359271.3:c.504C>T	ENSP00000352216.2:p.Phe168=
NM_030777.3:c.504C>T	NP_110404.1:p.Phe168=
XM_011529060.1:c.567C>T	XP_011527362.1:p.Phe189=
XM_011529061.1:c.513C>T	XP_011527363.1:p.Phe171=
XM_011529062.1:c.567C>T	XP_011527364.1:p.Phe189=
XM_011529063.1:c.567C>T	XP_011527365.1:p.Phe189=
XM_011529064.1:c.567C>T	XP_011527366.1:p.Phe189=
XM_011529065.1:c.567C>T	XP_011527367.1:p.Phe189=
XR_936641.1:n.703C>T
XM_011529060.2:c.567C>T	XP_011527362.1:p.Phe189=
XM_011529061.2:c.513C>T	XP_011527363.1:p.Phe171=
XM_011529062.2:c.567C>T	XP_011527364.1:p.Phe189=
XM_011529063.2:c.567C>T	XP_011527365.1:p.Phe189=
XM_011529064.2:c.567C>T	XP_011527366.1:p.Phe189=
XM_011529065.2:c.567C>T	XP_011527367.1:p.Phe189=
XM_017028087.2:c.504C>T	XP_016883576.1:p.Phe168=
XR_936641.2:n.690C>T
NM_030777.4:c.504C>T MANE Select	NP_110404.1:p.Phe168=