Canonical Allele Identifier: CA4352807

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 1068359
• ClinVar RCV Id: RCV001379885 ; RCV003473920
• dbSNP Id: rs771583670
• ExAC: 7:95751150 C / G
• gnomAD v2: 7-95751150-C-G
• gnomAD v3: 7-96121838-C-G
• gnomAD v4: 7-96121838-C-G
• MyVariant Identifiers: chr7:g.95751150C>G (hg19) ; chr7:g.96121838C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121838C>G , CM000669.2:g.96121838C>G	GRCh38
NC_000007.13:g.95751150C>G , CM000669.1:g.95751150C>G	GRCh37
NC_000007.12:g.95589086C>G	NCBI36
NG_012247.1:g.205310G>C
NG_012247.2:g.205310G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1750+1G>C MANE Select	ENSP00000265631.6:n.1750+1G>C
ENST00000265631.9:c.1750+1G>C	ENSP00000265631.5:n.1750+1G>C
ENST00000416240.6:c.1753+1G>C	ENSP00000400101.2:n.1753+1G>C
ENST00000494085.1:n.161G>C
NM_001160210.1:c.1753+1G>C	NP_001153682.1:n.1753+1G>C
NM_014251.2:c.1750+1G>C	NP_055066.1:n.1750+1G>C
NR_027662.1:n.1825+1G>C
XM_006715831.2:c.1783+1G>C	XP_006715894.1:n.1783+1G>C
XM_011515728.1:c.898+1G>C	XP_011514030.1:n.898+1G>C
XM_006715831.4:c.1783+1G>C	XP_006715894.1:n.1783+1G>C
XM_017011663.1:c.1741+1G>C	XP_016867152.1:n.1741+1G>C
XM_017011664.2:c.898+1G>C	XP_016867153.1:n.898+1G>C
XM_017011665.1:c.898+1G>C	XP_016867154.1:n.898+1G>C
XR_001744525.2:n.1996+1G>C
XR_002956405.1:n.2554+1G>C
NM_014251.3:c.1750+1G>C MANE Select	NP_055066.1:n.1750+1G>C
NR_027662.2:n.1776+1G>C
NM_001160210.2:c.1753+1G>C	NP_001153682.1:n.1753+1G>C