Canonical Allele Identifier: CA368263408
Gene: SLC25A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96193105A>G , CM000669.2:g.96193105A>G GRCh38
NC_000007.13:g.95822417A>G , CM000669.1:g.95822417A>G GRCh37
NC_000007.12:g.95660353A>G NCBI36
NG_012247.1:g.134043T>C
NG_012247.2:g.134043T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.547T>C MANE Select ENSP00000265631.6:p.Phe183Leu
ENST00000265631.9:c.547T>C ENSP00000265631.5:p.Phe183Leu
ENST00000416240.6:c.547T>C ENSP00000400101.2:p.Phe183Leu
NM_001160210.1:c.547T>C NP_001153682.1:p.Phe183Leu
NM_014251.2:c.547T>C NP_055066.1:p.Phe183Leu
NR_027662.1:n.622T>C
XM_006715831.2:c.580T>C XP_006715894.1:p.Phe194Leu
XM_011515727.1:c.580T>C XP_011514029.1:p.Phe194Leu
XM_006715831.4:c.580T>C XP_006715894.1:p.Phe194Leu
XM_011515727.3:c.580T>C XP_011514029.1:p.Phe194Leu
XM_017011663.1:c.538T>C XP_016867152.1:p.Phe180Leu
XM_017011664.2:c.-212T>C XP_016867153.1:n.-212T>C
XM_017011665.1:c.-212T>C XP_016867154.1:n.-212T>C
XR_001744525.2:n.718T>C
XR_002956405.1:n.860T>C
NM_014251.3:c.547T>C MANE Select NP_055066.1:p.Phe183Leu
NR_027662.2:n.573T>C
NM_001160210.2:c.547T>C NP_001153682.1:p.Phe183Leu