Canonical Allele Identifier: CA2683824368
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs1347605339
gnomAD v4: 7-96169961-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96169961C>G , CM000669.2:g.96169961C>G GRCh38
NC_000007.13:g.95799273C>G , CM000669.1:g.95799273C>G GRCh37
NC_000007.12:g.95637209C>G NCBI36
NG_012247.1:g.157187G>C
NG_012247.2:g.157187G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.1311+84G>C MANE Select ENSP00000265631.6:n.1311+84G>C
ENST00000265631.9:c.1311+84G>C ENSP00000265631.5:n.1311+84G>C
ENST00000416240.6:c.1314+84G>C ENSP00000400101.2:n.1314+84G>C
ENST00000484495.5:n.465-18G>C
ENST00000490072.5:n.378+84G>C
NM_001160210.1:c.1314+84G>C NP_001153682.1:n.1314+84G>C
NM_014251.2:c.1311+84G>C NP_055066.1:n.1311+84G>C
NR_027662.1:n.1386+84G>C
XM_006715831.2:c.1344+84G>C XP_006715894.1:n.1344+84G>C
XM_011515727.1:c.1345-18G>C XP_011514029.1:n.1345-18G>C
XM_011515728.1:c.459+84G>C XP_011514030.1:n.459+84G>C
XM_006715831.4:c.1344+84G>C XP_006715894.1:n.1344+84G>C
XM_011515727.3:c.1345-18G>C XP_011514029.1:n.1345-18G>C
XM_017011663.1:c.1302+84G>C XP_016867152.1:n.1302+84G>C
XM_017011664.2:c.459+84G>C XP_016867153.1:n.459+84G>C
XM_017011665.1:c.459+84G>C XP_016867154.1:n.459+84G>C
XR_001744525.2:n.1483-18G>C
XR_002956405.1:n.2115+84G>C
NM_014251.3:c.1311+84G>C MANE Select NP_055066.1:n.1311+84G>C
NR_027662.2:n.1337+84G>C
NM_001160210.2:c.1314+84G>C NP_001153682.1:n.1314+84G>C