Canonical Allele Identifier: CA4352780

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361012
• ClinVar RCV Id: RCV000283345 ; RCV000337119 ; RCV001447525
• dbSNP Id: rs757177279
• ExAC: 7:95751011 A / T
• gnomAD v2: 7-95751011-A-T
• gnomAD v3: 7-96121699-A-T
• gnomAD v4: 7-96121699-A-T
• MyVariant Identifiers: chr7:g.95751011A>T (hg19) ; chr7:g.96121699A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121699A>T , CM000669.2:g.96121699A>T	GRCh38
NC_000007.13:g.95751011A>T , CM000669.1:g.95751011A>T	GRCh37
NC_000007.12:g.95588947A>T	NCBI36
NG_012247.1:g.205449T>A
NG_012247.2:g.205449T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1797T>A MANE Select	ENSP00000265631.6:p.Thr599=
ENST00000265631.9:c.1797T>A	ENSP00000265631.5:p.Thr599=
ENST00000416240.6:c.1800T>A	ENSP00000400101.2:p.Thr600=
ENST00000494085.1:n.300T>A
NM_001160210.1:c.1800T>A	NP_001153682.1:p.Thr600=
NM_014251.2:c.1797T>A	NP_055066.1:p.Thr599=
NR_027662.1:n.1872T>A
XM_006715831.2:c.1830T>A	XP_006715894.1:p.Thr610=
XM_011515728.1:c.945T>A	XP_011514030.1:p.Thr315=
XM_006715831.4:c.1830T>A	XP_006715894.1:p.Thr610=
XM_017011663.1:c.1788T>A	XP_016867152.1:p.Thr596=
XM_017011664.2:c.945T>A	XP_016867153.1:p.Thr315=
XM_017011665.1:c.945T>A	XP_016867154.1:p.Thr315=
XR_001744525.2:n.2043T>A
XR_002956405.1:n.2601T>A
NM_014251.3:c.1797T>A MANE Select	NP_055066.1:p.Thr599=
NR_027662.2:n.1823T>A
NM_001160210.2:c.1800T>A	NP_001153682.1:p.Thr600=