Canonical Allele Identifier: CA342152
Gene: SLC25A13 HGNC NCBI

Linked Data

ClinVar Variation Id: 21510
dbSNP Id: rs80338715
gnomAD v4: 7-96321942-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96321942C>T , CM000669.2:g.96321942C>T GRCh38
NC_000007.13:g.95951254C>T , CM000669.1:g.95951254C>T GRCh37
NC_000007.12:g.95789190C>T NCBI36
NG_012247.1:g.5206G>A
NG_012247.2:g.5206G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.15G>A MANE Select ENSP00000265631.6:p.Lys5=
ENST00000265631.9:c.15G>A ENSP00000265631.5:p.Lys5=
ENST00000416240.6:c.15G>A ENSP00000400101.2:p.Lys5=
ENST00000472162.2:c.15G>A ENSP00000473505.1:p.Lys5=
NM_001160210.1:c.15G>A NP_001153682.1:p.Lys5=
NM_014251.2:c.15G>A NP_055066.1:p.Lys5=
NR_027662.1:n.206G>A
XM_011515727.3:c.-107G>A XP_011514029.1:n.-107G>A
XM_017011664.2:c.-744G>A XP_016867153.1:n.-744G>A
XM_017011665.1:c.-628G>A XP_016867154.1:n.-628G>A
XR_001744525.2:n.186G>A
XR_002956405.1:n.174G>A
NM_014251.3:c.15G>A MANE Select NP_055066.1:p.Lys5=
NR_027662.2:n.157G>A
NM_001160210.2:c.15G>A NP_001153682.1:p.Lys5=