Canonical Allele Identifier: CA844182871
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs1351062551
gnomAD v3: 7-96169973-C-T
gnomAD v4: 7-96169973-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96169973C>T , CM000669.2:g.96169973C>T GRCh38
NC_000007.13:g.95799285C>T , CM000669.1:g.95799285C>T GRCh37
NC_000007.12:g.95637221C>T NCBI36
NG_012247.1:g.157175G>A
NG_012247.2:g.157175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.1311+72G>A MANE Select ENSP00000265631.6:n.1311+72G>A
ENST00000265631.9:c.1311+72G>A ENSP00000265631.5:n.1311+72G>A
ENST00000416240.6:c.1314+72G>A ENSP00000400101.2:n.1314+72G>A
ENST00000484495.5:n.465-30G>A
ENST00000490072.5:n.378+72G>A
NM_001160210.1:c.1314+72G>A NP_001153682.1:n.1314+72G>A
NM_014251.2:c.1311+72G>A NP_055066.1:n.1311+72G>A
NR_027662.1:n.1386+72G>A
XM_006715831.2:c.1344+72G>A XP_006715894.1:n.1344+72G>A
XM_011515727.1:c.1345-30G>A XP_011514029.1:n.1345-30G>A
XM_011515728.1:c.459+72G>A XP_011514030.1:n.459+72G>A
XM_006715831.4:c.1344+72G>A XP_006715894.1:n.1344+72G>A
XM_011515727.3:c.1345-30G>A XP_011514029.1:n.1345-30G>A
XM_017011663.1:c.1302+72G>A XP_016867152.1:n.1302+72G>A
XM_017011664.2:c.459+72G>A XP_016867153.1:n.459+72G>A
XM_017011665.1:c.459+72G>A XP_016867154.1:n.459+72G>A
XR_001744525.2:n.1483-30G>A
XR_002956405.1:n.2115+72G>A
NM_014251.3:c.1311+72G>A MANE Select NP_055066.1:n.1311+72G>A
NR_027662.2:n.1337+72G>A
NM_001160210.2:c.1314+72G>A NP_001153682.1:n.1314+72G>A