Canonical Allele Identifier: CA4352684

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361002
• ClinVar RCV Id: RCV000328397 ; RCV000385134
• dbSNP Id: rs147716687
• ExAC: 7:95749933 C / T
• gnomAD v2: 7-95749933-C-T
• gnomAD v3: 7-96120621-C-T
• gnomAD v4: 7-96120621-C-T
• MyVariant Identifiers: chr7:g.95749933C>T (hg19) ; chr7:g.96120621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96120621C>T , CM000669.2:g.96120621C>T	GRCh38
NC_000007.13:g.95749933C>T , CM000669.1:g.95749933C>T	GRCh37
NC_000007.12:g.95587869C>T	NCBI36
NG_012247.1:g.206527G>A
NG_012247.2:g.206527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.*570G>A MANE Select	ENSP00000265631.6:n.*570G>A
ENST00000265631.9:c.*570G>A	ENSP00000265631.5:n.*570G>A
ENST00000416240.6:c.*570G>A	ENSP00000400101.2:n.*570G>A
NM_001160210.1:c.*570G>A	NP_001153682.1:n.*570G>A
NM_014251.2:c.*570G>A	NP_055066.1:n.*570G>A
NR_027662.1:n.2673G>A
XM_006715831.2:c.*570G>A	XP_006715894.1:n.*570G>A
XM_011515728.1:c.*570G>A	XP_011514030.1:n.*570G>A
XM_006715831.4:c.*570G>A	XP_006715894.1:n.*570G>A
XM_017011663.1:c.*570G>A	XP_016867152.1:n.*570G>A
XM_017011664.2:c.*570G>A	XP_016867153.1:n.*570G>A
XM_017011665.1:c.*570G>A	XP_016867154.1:n.*570G>A
XR_001744525.2:n.2844G>A
XR_002956405.1:n.3402G>A
NM_014251.3:c.*570G>A MANE Select	NP_055066.1:n.*570G>A
NR_027662.2:n.2624G>A
NM_001160210.2:c.*570G>A	NP_001153682.1:n.*570G>A