Canonical Allele Identifier: CA266749

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 92110
• ClinVar RCV Id: RCV000077782 ; RCV000292034 ; RCV000404137 ; RCV001854367 ; RCV003474671
• dbSNP Id: rs398122839
• ExAC: 7:95813702 C / T
• gnomAD v2: 7-95813702-C-T
• gnomAD v3: 7-96184390-C-T
• gnomAD v4: 7-96184390-C-T
• MyVariant Identifiers: chr7:g.95813702C>T (hg19) ; chr7:g.96184390C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184390C>T , CM000669.2:g.96184390C>T	GRCh38
NC_000007.13:g.95813702C>T , CM000669.1:g.95813702C>T	GRCh37
NC_000007.12:g.95651638C>T	NCBI36
NG_012247.1:g.142758G>A
NG_012247.2:g.142758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1064G>A MANE Select	ENSP00000265631.6:p.Arg355Gln
ENST00000265631.9:c.1064G>A	ENSP00000265631.5:p.Arg355Gln
ENST00000416240.6:c.1067G>A	ENSP00000400101.2:p.Arg356Gln
ENST00000484495.5:n.217G>A
ENST00000490072.5:n.131G>A
ENST00000492869.1:n.185G>A
NM_001160210.1:c.1067G>A	NP_001153682.1:p.Arg356Gln
NM_014251.2:c.1064G>A	NP_055066.1:p.Arg355Gln
NR_027662.1:n.1139G>A
XM_006715831.2:c.1097G>A	XP_006715894.1:p.Arg366Gln
XM_011515727.1:c.1097G>A	XP_011514029.1:p.Arg366Gln
XM_011515728.1:c.212G>A	XP_011514030.1:p.Arg71Gln
XM_006715831.4:c.1097G>A	XP_006715894.1:p.Arg366Gln
XM_011515727.3:c.1097G>A	XP_011514029.1:p.Arg366Gln
XM_017011663.1:c.1055G>A	XP_016867152.1:p.Arg352Gln
XM_017011664.2:c.212G>A	XP_016867153.1:p.Arg71Gln
XM_017011665.1:c.212G>A	XP_016867154.1:p.Arg71Gln
XR_001744525.2:n.1235G>A
XR_002956405.1:n.1868G>A
NM_014251.3:c.1064G>A MANE Select	NP_055066.1:p.Arg355Gln
NR_027662.2:n.1090G>A
NM_001160210.2:c.1067G>A	NP_001153682.1:p.Arg356Gln