Canonical Allele Identifier: CA253674

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 6002
• ClinVar RCV Id: RCV000006369 ; RCV000006370 ; RCV000808307 ; RCV001277073 ; RCV002259301
• dbSNP Id: rs80338722
• ExAC: 7:95813588 C / T
• gnomAD v2: 7-95813588-C-T
• gnomAD v3: 7-96184276-C-T
• gnomAD v4: 7-96184276-C-T
• MyVariant Identifiers: chr7:g.95813588C>T (hg19) ; chr7:g.96184276C>T (hg38)
• PubMed: PMID:10369257 ; PMID:11281457 ; PMID:11343053 ; PMID:12424587 ; PMID:20301360 ; PMID:24161253 ; PMID:24282362

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184276C>T , CM000669.2:g.96184276C>T	GRCh38
NC_000007.13:g.95813588C>T , CM000669.1:g.95813588C>T	GRCh37
NC_000007.12:g.95651524C>T	NCBI36
NG_012247.1:g.142872G>A
NG_012247.2:g.142872G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1177+1G>A MANE Select	ENSP00000265631.6:n.1177+1G>A
ENST00000265631.9:c.1177+1G>A	ENSP00000265631.5:n.1177+1G>A
ENST00000416240.6:c.1180+1G>A	ENSP00000400101.2:n.1180+1G>A
ENST00000484495.5:n.330+1G>A
ENST00000490072.5:n.244+1G>A
ENST00000492869.1:n.298+1G>A
NM_001160210.1:c.1180+1G>A	NP_001153682.1:n.1180+1G>A
NM_014251.2:c.1177+1G>A	NP_055066.1:n.1177+1G>A
NR_027662.1:n.1252+1G>A
XM_006715831.2:c.1210+1G>A	XP_006715894.1:n.1210+1G>A
XM_011515727.1:c.1210+1G>A	XP_011514029.1:n.1210+1G>A
XM_011515728.1:c.325+1G>A	XP_011514030.1:n.325+1G>A
XM_006715831.4:c.1210+1G>A	XP_006715894.1:n.1210+1G>A
XM_011515727.3:c.1210+1G>A	XP_011514029.1:n.1210+1G>A
XM_017011663.1:c.1168+1G>A	XP_016867152.1:n.1168+1G>A
XM_017011664.2:c.325+1G>A	XP_016867153.1:n.325+1G>A
XM_017011665.1:c.325+1G>A	XP_016867154.1:n.325+1G>A
XR_001744525.2:n.1348+1G>A
XR_002956405.1:n.1981+1G>A
NM_014251.3:c.1177+1G>A MANE Select	NP_055066.1:n.1177+1G>A
NR_027662.2:n.1203+1G>A
NM_001160210.2:c.1180+1G>A	NP_001153682.1:n.1180+1G>A