Canonical Allele Identifier: CA368262146
Gene: SLC25A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189326G>C , CM000669.2:g.96189326G>C GRCh38
NC_000007.13:g.95818638G>C , CM000669.1:g.95818638G>C GRCh37
NC_000007.12:g.95656574G>C NCBI36
NG_012247.1:g.137822C>G
NG_012247.2:g.137822C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.901C>G MANE Select ENSP00000265631.6:p.Leu301Val
ENST00000265631.9:c.901C>G ENSP00000265631.5:p.Leu301Val
ENST00000416240.6:c.901C>G ENSP00000400101.2:p.Leu301Val
ENST00000484495.5:n.54C>G
NM_001160210.1:c.901C>G NP_001153682.1:p.Leu301Val
NM_014251.2:c.901C>G NP_055066.1:p.Leu301Val
NR_027662.1:n.976C>G
XM_006715831.2:c.934C>G XP_006715894.1:p.Leu312Val
XM_011515727.1:c.934C>G XP_011514029.1:p.Leu312Val
XM_011515728.1:c.49C>G XP_011514030.1:p.Leu17Val
XM_006715831.4:c.934C>G XP_006715894.1:p.Leu312Val
XM_011515727.3:c.934C>G XP_011514029.1:p.Leu312Val
XM_017011663.1:c.892C>G XP_016867152.1:p.Leu298Val
XM_017011664.2:c.49C>G XP_016867153.1:p.Leu17Val
XM_017011665.1:c.49C>G XP_016867154.1:p.Leu17Val
XR_001744525.2:n.1072C>G
XR_002956405.1:n.1214C>G
NM_014251.3:c.901C>G MANE Select NP_055066.1:p.Leu301Val
NR_027662.2:n.927C>G
NM_001160210.2:c.901C>G NP_001153682.1:p.Leu301Val