Canonical Allele Identifier: CA4353003

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361019
• ClinVar RCV Id: RCV000267637 ; RCV000320495 ; RCV003581651
• dbSNP Id: rs201352939
• ExAC: 7:95800773 A / G
• gnomAD v2: 7-95800773-A-G
• gnomAD v3: 7-96171461-A-G
• gnomAD v4: 7-96171461-A-G
• MyVariant Identifiers: chr7:g.95800773A>G (hg19) ; chr7:g.96171461A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96171461A>G , CM000669.2:g.96171461A>G	GRCh38
NC_000007.13:g.95800773A>G , CM000669.1:g.95800773A>G	GRCh37
NC_000007.12:g.95638709A>G	NCBI36
NG_012247.1:g.155687T>C
NG_012247.2:g.155687T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1230+11T>C MANE Select	ENSP00000265631.6:n.1230+11T>C
ENST00000265631.9:c.1230+11T>C	ENSP00000265631.5:n.1230+11T>C
ENST00000416240.6:c.1233+11T>C	ENSP00000400101.2:n.1233+11T>C
ENST00000484495.5:n.383+11T>C
ENST00000490072.5:n.297+11T>C
ENST00000492869.1:n.351+11T>C
NM_001160210.1:c.1233+11T>C	NP_001153682.1:n.1233+11T>C
NM_014251.2:c.1230+11T>C	NP_055066.1:n.1230+11T>C
NR_027662.1:n.1305+11T>C
XM_006715831.2:c.1263+11T>C	XP_006715894.1:n.1263+11T>C
XM_011515727.1:c.1263+11T>C	XP_011514029.1:n.1263+11T>C
XM_011515728.1:c.378+11T>C	XP_011514030.1:n.378+11T>C
XM_006715831.4:c.1263+11T>C	XP_006715894.1:n.1263+11T>C
XM_011515727.3:c.1263+11T>C	XP_011514029.1:n.1263+11T>C
XM_017011663.1:c.1221+11T>C	XP_016867152.1:n.1221+11T>C
XM_017011664.2:c.378+11T>C	XP_016867153.1:n.378+11T>C
XM_017011665.1:c.378+11T>C	XP_016867154.1:n.378+11T>C
XR_001744525.2:n.1401+11T>C
XR_002956405.1:n.2034+11T>C
NM_014251.3:c.1230+11T>C MANE Select	NP_055066.1:n.1230+11T>C
NR_027662.2:n.1256+11T>C
NM_001160210.2:c.1233+11T>C	NP_001153682.1:n.1233+11T>C