Canonical Allele Identifier: CA368258533
Gene: SLC25A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121970G>T , CM000669.2:g.96121970G>T GRCh38
NC_000007.13:g.95751282G>T , CM000669.1:g.95751282G>T GRCh37
NC_000007.12:g.95589218G>T NCBI36
NG_012247.1:g.205178C>A
NG_012247.2:g.205178C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.1619C>A MANE Select ENSP00000265631.6:p.Pro540His
ENST00000265631.9:c.1619C>A ENSP00000265631.5:p.Pro540His
ENST00000416240.6:c.1622C>A ENSP00000400101.2:p.Pro541His
ENST00000494085.1:n.29C>A
NM_001160210.1:c.1622C>A NP_001153682.1:p.Pro541His
NM_014251.2:c.1619C>A NP_055066.1:p.Pro540His
NR_027662.1:n.1694C>A
XM_006715831.2:c.1652C>A XP_006715894.1:p.Pro551His
XM_011515728.1:c.767C>A XP_011514030.1:p.Pro256His
XM_006715831.4:c.1652C>A XP_006715894.1:p.Pro551His
XM_017011663.1:c.1610C>A XP_016867152.1:p.Pro537His
XM_017011664.2:c.767C>A XP_016867153.1:p.Pro256His
XM_017011665.1:c.767C>A XP_016867154.1:p.Pro256His
XR_001744525.2:n.1865C>A
XR_002956405.1:n.2423C>A
NM_014251.3:c.1619C>A MANE Select NP_055066.1:p.Pro540His
NR_027662.2:n.1645C>A
NM_001160210.2:c.1622C>A NP_001153682.1:p.Pro541His