Canonical Allele Identifier: CA368262080
Gene: SLC25A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189313A>G , CM000669.2:g.96189313A>G GRCh38
NC_000007.13:g.95818625A>G , CM000669.1:g.95818625A>G GRCh37
NC_000007.12:g.95656561A>G NCBI36
NG_012247.1:g.137835T>C
NG_012247.2:g.137835T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.914T>C MANE Select ENSP00000265631.6:p.Leu305Ser
ENST00000265631.9:c.914T>C ENSP00000265631.5:p.Leu305Ser
ENST00000416240.6:c.914T>C ENSP00000400101.2:p.Leu305Ser
ENST00000484495.5:n.67T>C
NM_001160210.1:c.914T>C NP_001153682.1:p.Leu305Ser
NM_014251.2:c.914T>C NP_055066.1:p.Leu305Ser
NR_027662.1:n.989T>C
XM_006715831.2:c.947T>C XP_006715894.1:p.Leu316Ser
XM_011515727.1:c.947T>C XP_011514029.1:p.Leu316Ser
XM_011515728.1:c.62T>C XP_011514030.1:p.Leu21Ser
XM_006715831.4:c.947T>C XP_006715894.1:p.Leu316Ser
XM_011515727.3:c.947T>C XP_011514029.1:p.Leu316Ser
XM_017011663.1:c.905T>C XP_016867152.1:p.Leu302Ser
XM_017011664.2:c.62T>C XP_016867153.1:p.Leu21Ser
XM_017011665.1:c.62T>C XP_016867154.1:p.Leu21Ser
XR_001744525.2:n.1085T>C
XR_002956405.1:n.1227T>C
NM_014251.3:c.914T>C MANE Select NP_055066.1:p.Leu305Ser
NR_027662.2:n.940T>C
NM_001160210.2:c.914T>C NP_001153682.1:p.Leu305Ser