Canonical Allele Identifier: CA4353114

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 2678812
• ClinVar RCV Id: RCV003466384
• dbSNP Id: rs143181462
• ExAC: 7:95818670 A / G
• gnomAD v2: 7-95818670-A-G
• gnomAD v3: 7-96189358-A-G
• gnomAD v4: 7-96189358-A-G
• COSMIC: COSM3781337
• MyVariant Identifiers: chr7:g.95818670A>G (hg19) ; chr7:g.96189358A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189358A>G , CM000669.2:g.96189358A>G	GRCh38
NC_000007.13:g.95818670A>G , CM000669.1:g.95818670A>G	GRCh37
NC_000007.12:g.95656606A>G	NCBI36
NG_012247.1:g.137790T>C
NG_012247.2:g.137790T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.869T>C MANE Select	ENSP00000265631.6:p.Ile290Thr
ENST00000265631.9:c.869T>C	ENSP00000265631.5:p.Ile290Thr
ENST00000416240.6:c.869T>C	ENSP00000400101.2:p.Ile290Thr
ENST00000484495.5:n.22T>C
NM_001160210.1:c.869T>C	NP_001153682.1:p.Ile290Thr
NM_014251.2:c.869T>C	NP_055066.1:p.Ile290Thr
NR_027662.1:n.944T>C
XM_006715831.2:c.902T>C	XP_006715894.1:p.Ile301Thr
XM_011515727.1:c.902T>C	XP_011514029.1:p.Ile301Thr
XM_011515728.1:c.17T>C	XP_011514030.1:p.Ile6Thr
XM_006715831.4:c.902T>C	XP_006715894.1:p.Ile301Thr
XM_011515727.3:c.902T>C	XP_011514029.1:p.Ile301Thr
XM_017011663.1:c.860T>C	XP_016867152.1:p.Ile287Thr
XM_017011664.2:c.17T>C	XP_016867153.1:p.Ile6Thr
XM_017011665.1:c.17T>C	XP_016867154.1:p.Ile6Thr
XR_001744525.2:n.1040T>C
XR_002956405.1:n.1182T>C
NM_014251.3:c.869T>C MANE Select	NP_055066.1:p.Ile290Thr
NR_027662.2:n.895T>C
NM_001160210.2:c.869T>C	NP_001153682.1:p.Ile290Thr