Canonical Allele Identifier: CA409267482

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 2564032
• ClinVar RCV Id: RCV003306361
• MyVariant Identifiers: chr20:g.45354299G>C (hg19) ; chr20:g.46725660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725660G>C , CM000682.2:g.46725660G>C	GRCh38
NC_000020.10:g.45354299G>C , CM000682.1:g.45354299G>C	GRCh37
NC_000020.9:g.44787706G>C	NCBI36
NG_016284.1:g.21021G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.624G>C MANE Select	ENSP00000352216.2:p.Lys208Asn
ENST00000359271.3:c.624G>C	ENSP00000352216.2:p.Lys208Asn
NM_030777.3:c.624G>C	NP_110404.1:p.Lys208Asn
XM_011529060.1:c.687G>C	XP_011527362.1:p.Lys229Asn
XM_011529061.1:c.633G>C	XP_011527363.1:p.Lys211Asn
XM_011529062.1:c.687G>C	XP_011527364.1:p.Lys229Asn
XM_011529063.1:c.687G>C	XP_011527365.1:p.Lys229Asn
XM_011529064.1:c.687G>C	XP_011527366.1:p.Lys229Asn
XM_011529065.1:c.687G>C	XP_011527367.1:p.Lys229Asn
XR_936641.1:n.823G>C
XM_011529060.2:c.687G>C	XP_011527362.1:p.Lys229Asn
XM_011529061.2:c.633G>C	XP_011527363.1:p.Lys211Asn
XM_011529062.2:c.687G>C	XP_011527364.1:p.Lys229Asn
XM_011529063.2:c.687G>C	XP_011527365.1:p.Lys229Asn
XM_011529064.2:c.687G>C	XP_011527366.1:p.Lys229Asn
XM_011529065.2:c.687G>C	XP_011527367.1:p.Lys229Asn
XM_017028087.2:c.624G>C	XP_016883576.1:p.Lys208Asn
XR_936641.2:n.810G>C
NM_030777.4:c.624G>C MANE Select	NP_110404.1:p.Lys208Asn