Canonical Allele Identifier: CA4353006

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361020
• ClinVar RCV Id: RCV000262455 ; RCV000358899 ; RCV000730605 ; RCV001095143 ; RCV001828358
• dbSNP Id: rs150021522
• ExAC: 7:95800784 T / G
• gnomAD v2: 7-95800784-T-G
• gnomAD v3: 7-96171472-T-G
• gnomAD v4: 7-96171472-T-G
• MyVariant Identifiers: chr7:g.95800784T>G (hg19) ; chr7:g.96171472T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96171472T>G , CM000669.2:g.96171472T>G	GRCh38
NC_000007.13:g.95800784T>G , CM000669.1:g.95800784T>G	GRCh37
NC_000007.12:g.95638720T>G	NCBI36
NG_012247.1:g.155676A>C
NG_012247.2:g.155676A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1230A>C MANE Select	ENSP00000265631.6:p.Thr410=
ENST00000265631.9:c.1230A>C	ENSP00000265631.5:p.Thr410=
ENST00000416240.6:c.1233A>C	ENSP00000400101.2:p.Thr411=
ENST00000484495.5:n.383A>C
ENST00000490072.5:n.297A>C
ENST00000492869.1:n.351A>C
NM_001160210.1:c.1233A>C	NP_001153682.1:p.Thr411=
NM_014251.2:c.1230A>C	NP_055066.1:p.Thr410=
NR_027662.1:n.1305A>C
XM_006715831.2:c.1263A>C	XP_006715894.1:p.Thr421=
XM_011515727.1:c.1263A>C	XP_011514029.1:p.Thr421=
XM_011515728.1:c.378A>C	XP_011514030.1:p.Thr126=
XM_006715831.4:c.1263A>C	XP_006715894.1:p.Thr421=
XM_011515727.3:c.1263A>C	XP_011514029.1:p.Thr421=
XM_017011663.1:c.1221A>C	XP_016867152.1:p.Thr407=
XM_017011664.2:c.378A>C	XP_016867153.1:p.Thr126=
XM_017011665.1:c.378A>C	XP_016867154.1:p.Thr126=
XR_001744525.2:n.1401A>C
XR_002956405.1:n.2034A>C
NM_014251.3:c.1230A>C MANE Select	NP_055066.1:p.Thr410=
NR_027662.2:n.1256A>C
NM_001160210.2:c.1233A>C	NP_001153682.1:p.Thr411=