Canonical Allele Identifier: CA368258371

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 1069536
• ClinVar RCV Id: RCV001381428
• dbSNP Id: rs879255502
• MyVariant Identifiers: chr7:g.95799357G>T (hg19) ; chr7:g.96170045G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96170045G>T , CM000669.2:g.96170045G>T	GRCh38
NC_000007.13:g.95799357G>T , CM000669.1:g.95799357G>T	GRCh37
NC_000007.12:g.95637293G>T	NCBI36
NG_012247.1:g.157103C>A
NG_012247.2:g.157103C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1311C>A MANE Select	ENSP00000265631.6:p.Cys437Ter
ENST00000265631.9:c.1311C>A	ENSP00000265631.5:p.Cys437Ter
ENST00000416240.6:c.1314C>A	ENSP00000400101.2:p.Cys438Ter
ENST00000484495.5:n.464C>A
ENST00000490072.5:n.378C>A
ENST00000492869.1:n.432C>A
NM_001160210.1:c.1314C>A	NP_001153682.1:p.Cys438Ter
NM_014251.2:c.1311C>A	NP_055066.1:p.Cys437Ter
NR_027662.1:n.1386C>A
XM_006715831.2:c.1344C>A	XP_006715894.1:p.Cys448Ter
XM_011515727.1:c.1344C>A	XP_011514029.1:p.Cys448Ter
XM_011515728.1:c.459C>A	XP_011514030.1:p.Cys153Ter
XM_006715831.4:c.1344C>A	XP_006715894.1:p.Cys448Ter
XM_011515727.3:c.1344C>A	XP_011514029.1:p.Cys448Ter
XM_017011663.1:c.1302C>A	XP_016867152.1:p.Cys434Ter
XM_017011664.2:c.459C>A	XP_016867153.1:p.Cys153Ter
XM_017011665.1:c.459C>A	XP_016867154.1:p.Cys153Ter
XR_001744525.2:n.1482C>A
XR_002956405.1:n.2115C>A
NM_014251.3:c.1311C>A MANE Select	NP_055066.1:p.Cys437Ter
NR_027662.2:n.1337C>A
NM_001160210.2:c.1314C>A	NP_001153682.1:p.Cys438Ter