Canonical Allele Identifier: CA9892162

Gene: SLC2A10

Linked Data

• dbSNP Id: rs748222951
• ExAC: 20:45355511 C / T
• gnomAD v2: 20-45355511-C-T
• MyVariant Identifiers: chr20:g.45355511C>T (hg19) ; chr20:g.45355511_45355513delinsTTT (hg19) ; chr20:g.46726872C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46726872C>T , CM000682.2:g.46726872C>T	GRCh38
NC_000020.10:g.45355511C>T , CM000682.1:g.45355511C>T	GRCh37
NC_000020.9:g.44788918C>T	NCBI36
NG_016284.1:g.22233C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.1297C>T MANE Select	ENSP00000352216.2:p.Leu433Phe
ENST00000359271.3:c.1297C>T	ENSP00000352216.2:p.Leu433Phe
NM_030777.3:c.1297C>T	NP_110404.1:p.Leu433Phe
XM_011529060.1:c.1360C>T	XP_011527362.1:p.Leu454Phe
XM_011529061.1:c.1306C>T	XP_011527363.1:p.Leu436Phe
XM_011529062.1:c.1409C>T	XP_011527364.1:p.Ala470Val
XM_011529063.1:c.1360C>T	XP_011527365.1:p.Leu454Phe
XM_011529064.1:c.1409C>T	XP_011527366.1:p.Ala470Val
XM_011529065.1:c.1360C>T	XP_011527367.1:p.Leu454Phe
XR_936641.1:n.1545C>T
XM_011529060.2:c.1360C>T	XP_011527362.1:p.Leu454Phe
XM_011529061.2:c.1306C>T	XP_011527363.1:p.Leu436Phe
XM_011529062.2:c.1409C>T	XP_011527364.1:p.Ala470Val
XM_011529063.2:c.1360C>T	XP_011527365.1:p.Leu454Phe
XM_011529064.2:c.1409C>T	XP_011527366.1:p.Ala470Val
XM_011529065.2:c.1360C>T	XP_011527367.1:p.Leu454Phe
XM_017028087.2:c.1297C>T	XP_016883576.1:p.Leu433Phe
XR_936641.2:n.1532C>T
NM_030777.4:c.1297C>T MANE Select	NP_110404.1:p.Leu433Phe