Canonical Allele Identifier: CA4352941

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361014
• ClinVar RCV Id: RCV000335940 ; RCV000404811
• dbSNP Id: rs372216502
• ExAC: 7:95775927 C / A
• gnomAD v2: 7-95775927-C-A
• gnomAD v3: 7-96146615-C-A
• gnomAD v4: 7-96146615-C-A
• MyVariant Identifiers: chr7:g.95775927C>A (hg19) ; chr7:g.96146615C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96146615C>A , CM000669.2:g.96146615C>A	GRCh38
NC_000007.13:g.95775927C>A , CM000669.1:g.95775927C>A	GRCh37
NC_000007.12:g.95613863C>A	NCBI36
NG_012247.1:g.180533G>T
NG_012247.2:g.180533G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1393G>T MANE Select	ENSP00000265631.6:p.Gly465Cys
ENST00000265631.9:c.1393G>T	ENSP00000265631.5:p.Gly465Cys
ENST00000416240.6:c.1396G>T	ENSP00000400101.2:p.Gly466Cys
ENST00000490072.5:n.517G>T
NM_001160210.1:c.1396G>T	NP_001153682.1:p.Gly466Cys
NM_014251.2:c.1393G>T	NP_055066.1:p.Gly465Cys
NR_027662.1:n.1468G>T
XM_006715831.2:c.1426G>T	XP_006715894.1:p.Gly476Cys
XM_011515728.1:c.541G>T	XP_011514030.1:p.Gly181Cys
XM_006715831.4:c.1426G>T	XP_006715894.1:p.Gly476Cys
XM_011515727.3:c.*130G>T	XP_011514029.1:n.*130G>T
XM_017011663.1:c.1384G>T	XP_016867152.1:p.Gly462Cys
XM_017011664.2:c.541G>T	XP_016867153.1:p.Gly181Cys
XM_017011665.1:c.541G>T	XP_016867154.1:p.Gly181Cys
XR_001744525.2:n.1639G>T
XR_002956405.1:n.2197G>T
NM_014251.3:c.1393G>T MANE Select	NP_055066.1:p.Gly465Cys
NR_027662.2:n.1419G>T
NM_001160210.2:c.1396G>T	NP_001153682.1:p.Gly466Cys