Canonical Allele Identifier: CA4353029

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 724853
• ClinVar RCV Id: RCV000898838 ; RCV001272330
• dbSNP Id: rs377724262
• ExAC: 7:95813596 C / A
• gnomAD v2: 7-95813596-C-A
• gnomAD v3: 7-96184284-C-A
• gnomAD v4: 7-96184284-C-A
• MyVariant Identifiers: chr7:g.95813596C>A (hg19) ; chr7:g.96184284C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184284C>A , CM000669.2:g.96184284C>A	GRCh38
NC_000007.13:g.95813596C>A , CM000669.1:g.95813596C>A	GRCh37
NC_000007.12:g.95651532C>A	NCBI36
NG_012247.1:g.142864G>T
NG_012247.2:g.142864G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1170G>T MANE Select	ENSP00000265631.6:p.Leu390=
ENST00000265631.9:c.1170G>T	ENSP00000265631.5:p.Leu390=
ENST00000416240.6:c.1173G>T	ENSP00000400101.2:p.Leu391=
ENST00000484495.5:n.323G>T
ENST00000490072.5:n.237G>T
ENST00000492869.1:n.291G>T
NM_001160210.1:c.1173G>T	NP_001153682.1:p.Leu391=
NM_014251.2:c.1170G>T	NP_055066.1:p.Leu390=
NR_027662.1:n.1245G>T
XM_006715831.2:c.1203G>T	XP_006715894.1:p.Leu401=
XM_011515727.1:c.1203G>T	XP_011514029.1:p.Leu401=
XM_011515728.1:c.318G>T	XP_011514030.1:p.Leu106=
XM_006715831.4:c.1203G>T	XP_006715894.1:p.Leu401=
XM_011515727.3:c.1203G>T	XP_011514029.1:p.Leu401=
XM_017011663.1:c.1161G>T	XP_016867152.1:p.Leu387=
XM_017011664.2:c.318G>T	XP_016867153.1:p.Leu106=
XM_017011665.1:c.318G>T	XP_016867154.1:p.Leu106=
XR_001744525.2:n.1341G>T
XR_002956405.1:n.1974G>T
NM_014251.3:c.1170G>T MANE Select	NP_055066.1:p.Leu390=
NR_027662.2:n.1196G>T
NM_001160210.2:c.1173G>T	NP_001153682.1:p.Leu391=