Canonical Allele Identifier: CA409266619

Gene: SLC2A10

Linked Data

• dbSNP Id: rs1440303229
• gnomAD v4: 20-46725269-T-C
• MyVariant Identifiers: chr20:g.45353908T>C (hg19) ; chr20:g.46725269T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725269T>C , CM000682.2:g.46725269T>C	GRCh38
NC_000020.10:g.45353908T>C , CM000682.1:g.45353908T>C	GRCh37
NC_000020.9:g.44787315T>C	NCBI36
NG_016284.1:g.20630T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.233T>C MANE Select	ENSP00000352216.2:p.Ile78Thr
ENST00000359271.3:c.233T>C	ENSP00000352216.2:p.Ile78Thr
ENST00000611837.1:n.385T>C
NM_030777.3:c.233T>C	NP_110404.1:p.Ile78Thr
XM_011529060.1:c.296T>C	XP_011527362.1:p.Ile99Thr
XM_011529061.1:c.242T>C	XP_011527363.1:p.Ile81Thr
XM_011529062.1:c.296T>C	XP_011527364.1:p.Ile99Thr
XM_011529063.1:c.296T>C	XP_011527365.1:p.Ile99Thr
XM_011529064.1:c.296T>C	XP_011527366.1:p.Ile99Thr
XM_011529065.1:c.296T>C	XP_011527367.1:p.Ile99Thr
XR_936641.1:n.432T>C
XM_011529060.2:c.296T>C	XP_011527362.1:p.Ile99Thr
XM_011529061.2:c.242T>C	XP_011527363.1:p.Ile81Thr
XM_011529062.2:c.296T>C	XP_011527364.1:p.Ile99Thr
XM_011529063.2:c.296T>C	XP_011527365.1:p.Ile99Thr
XM_011529064.2:c.296T>C	XP_011527366.1:p.Ile99Thr
XM_011529065.2:c.296T>C	XP_011527367.1:p.Ile99Thr
XM_017028087.2:c.233T>C	XP_016883576.1:p.Ile78Thr
XR_936641.2:n.419T>C
NM_030777.4:c.233T>C MANE Select	NP_110404.1:p.Ile78Thr