Canonical Allele Identifier: CA510847741
Gene: SLC2A10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2748407
ClinVar RCV Id: RCV003502405
MyVariant Identifiers: chr20:g.45354254A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46725615A>G , CM000682.2:g.46725615A>G GRCh38
NC_000020.10:g.45354254A>G , CM000682.1:g.45354254A>G GRCh37
NC_000020.9:g.44787661A>G NCBI36
NG_016284.1:g.20976A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000359271.4:c.579A>G MANE Select ENSP00000352216.2:p.Ala193=
ENST00000359271.3:c.579A>G ENSP00000352216.2:p.Ala193=
NM_030777.3:c.579A>G NP_110404.1:p.Ala193=
XM_011529060.1:c.642A>G XP_011527362.1:p.Ala214=
XM_011529061.1:c.588A>G XP_011527363.1:p.Ala196=
XM_011529062.1:c.642A>G XP_011527364.1:p.Ala214=
XM_011529063.1:c.642A>G XP_011527365.1:p.Ala214=
XM_011529064.1:c.642A>G XP_011527366.1:p.Ala214=
XM_011529065.1:c.642A>G XP_011527367.1:p.Ala214=
XR_936641.1:n.778A>G
XM_011529060.2:c.642A>G XP_011527362.1:p.Ala214=
XM_011529061.2:c.588A>G XP_011527363.1:p.Ala196=
XM_011529062.2:c.642A>G XP_011527364.1:p.Ala214=
XM_011529063.2:c.642A>G XP_011527365.1:p.Ala214=
XM_011529064.2:c.642A>G XP_011527366.1:p.Ala214=
XM_011529065.2:c.642A>G XP_011527367.1:p.Ala214=
XM_017028087.2:c.579A>G XP_016883576.1:p.Ala193=
XR_936641.2:n.765A>G
NM_030777.4:c.579A>G MANE Select NP_110404.1:p.Ala193=