Canonical Allele Identifier: CA1811590544

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 2504051
• ClinVar RCV Id: RCV003231042

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96170048_96170049delinsTT , CM000669.2:g.96170048_96170049delinsTT	GRCh38
NC_000007.13:g.95799360_95799361delinsTT , CM000669.1:g.95799360_95799361delinsTT	GRCh37
NC_000007.12:g.95637296_95637297delinsTT	NCBI36
NG_012247.1:g.157099_157100delinsAA
NG_012247.2:g.157099_157100delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1307_1308delinsAA MANE Select	ENSP00000265631.6:p.Gly436Glu
ENST00000265631.9:c.1307_1308delinsAA	ENSP00000265631.5:p.Gly436Glu
ENST00000416240.6:c.1310_1311delinsAA	ENSP00000400101.2:p.Gly437Glu
ENST00000484495.5:n.460_461delinsAA
ENST00000490072.5:n.374_375delinsAA
ENST00000492869.1:n.428_429delinsAA
NM_001160210.1:c.1310_1311delinsAA	NP_001153682.1:p.Gly437Glu
NM_014251.2:c.1307_1308delinsAA	NP_055066.1:p.Gly436Glu
NR_027662.1:n.1382_1383delinsAA
XM_006715831.2:c.1340_1341delinsAA	XP_006715894.1:p.Gly447Glu
XM_011515727.1:c.1340_1341delinsAA	XP_011514029.1:p.Gly447Glu
XM_011515728.1:c.455_456delinsAA	XP_011514030.1:p.Gly152Glu
XM_006715831.4:c.1340_1341delinsAA	XP_006715894.1:p.Gly447Glu
XM_011515727.3:c.1340_1341delinsAA	XP_011514029.1:p.Gly447Glu
XM_017011663.1:c.1298_1299delinsAA	XP_016867152.1:p.Gly433Glu
XM_017011664.2:c.455_456delinsAA	XP_016867153.1:p.Gly152Glu
XM_017011665.1:c.455_456delinsAA	XP_016867154.1:p.Gly152Glu
XR_001744525.2:n.1478_1479delinsAA
XR_002956405.1:n.2111_2112delinsAA
NM_014251.3:c.1307_1308delinsAA MANE Select	NP_055066.1:p.Gly436Glu
NR_027662.2:n.1333_1334delinsAA
NM_001160210.2:c.1310_1311delinsAA	NP_001153682.1:p.Gly437Glu