Canonical Allele Identifier: CA4352738

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361010
• ClinVar RCV Id: RCV000271327 ; RCV000593765 ; RCV001277318 ; RCV000328760 ; RCV003168565 ; RCV001095212
• dbSNP Id: rs757317844
• ExAC: 7:95750586 C / G
• gnomAD v2: 7-95750586-C-G
• gnomAD v3: 7-96121274-C-G
• gnomAD v4: 7-96121274-C-G
• MyVariant Identifiers: chr7:g.95750586C>G (hg19) ; chr7:g.96121274C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121274C>G , CM000669.2:g.96121274C>G	GRCh38
NC_000007.13:g.95750586C>G , CM000669.1:g.95750586C>G	GRCh37
NC_000007.12:g.95588522C>G	NCBI36
NG_012247.1:g.205874G>C
NG_012247.2:g.205874G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1945G>C MANE Select	ENSP00000265631.6:p.Gly649Arg
ENST00000265631.9:c.1945G>C	ENSP00000265631.5:p.Gly649Arg
ENST00000416240.6:c.1948G>C	ENSP00000400101.2:p.Gly650Arg
ENST00000494085.1:n.448G>C
NM_001160210.1:c.1948G>C	NP_001153682.1:p.Gly650Arg
NM_014251.2:c.1945G>C	NP_055066.1:p.Gly649Arg
NR_027662.1:n.2020G>C
XM_006715831.2:c.1978G>C	XP_006715894.1:p.Gly660Arg
XM_011515728.1:c.1093G>C	XP_011514030.1:p.Gly365Arg
XM_006715831.4:c.1978G>C	XP_006715894.1:p.Gly660Arg
XM_017011663.1:c.1936G>C	XP_016867152.1:p.Gly646Arg
XM_017011664.2:c.1093G>C	XP_016867153.1:p.Gly365Arg
XM_017011665.1:c.1093G>C	XP_016867154.1:p.Gly365Arg
XR_001744525.2:n.2191G>C
XR_002956405.1:n.2749G>C
NM_014251.3:c.1945G>C MANE Select	NP_055066.1:p.Gly649Arg
NR_027662.2:n.1971G>C
NM_001160210.2:c.1948G>C	NP_001153682.1:p.Gly650Arg