Canonical Allele Identifier: CA4352968

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361017
• ClinVar RCV Id: RCV000268655 ; RCV000365675 ; RCV000594038 ; RCV001095293 ; RCV003950281
• dbSNP Id: rs180844972
• ExAC: 7:95799354 T / C
• gnomAD v2: 7-95799354-T-C
• gnomAD v3: 7-96170042-T-C
• gnomAD v4: 7-96170042-T-C
• MyVariant Identifiers: chr7:g.95799354T>C (hg19) ; chr7:g.96170042T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96170042T>C , CM000669.2:g.96170042T>C	GRCh38
NC_000007.13:g.95799354T>C , CM000669.1:g.95799354T>C	GRCh37
NC_000007.12:g.95637290T>C	NCBI36
NG_012247.1:g.157106A>G
NG_012247.2:g.157106A>G

Transcript Alleles

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