Canonical Allele Identifier: CA368262412
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs1442466379
gnomAD v2: 7-95818686-T-C
gnomAD v4: 7-96189374-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189374T>C , CM000669.2:g.96189374T>C GRCh38
NC_000007.13:g.95818686T>C , CM000669.1:g.95818686T>C GRCh37
NC_000007.12:g.95656622T>C NCBI36
NG_012247.1:g.137774A>G
NG_012247.2:g.137774A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.853A>G MANE Select ENSP00000265631.6:p.Met285Val
ENST00000265631.9:c.853A>G ENSP00000265631.5:p.Met285Val
ENST00000416240.6:c.853A>G ENSP00000400101.2:p.Met285Val
ENST00000484495.5:n.6A>G
NM_001160210.1:c.853A>G NP_001153682.1:p.Met285Val
NM_014251.2:c.853A>G NP_055066.1:p.Met285Val
NR_027662.1:n.928A>G
XM_006715831.2:c.886A>G XP_006715894.1:p.Met296Val
XM_011515727.1:c.886A>G XP_011514029.1:p.Met296Val
XM_011515728.1:c.1A>G XP_011514030.1:p.Met1Val
XM_006715831.4:c.886A>G XP_006715894.1:p.Met296Val
XM_011515727.3:c.886A>G XP_011514029.1:p.Met296Val
XM_017011663.1:c.844A>G XP_016867152.1:p.Met282Val
XM_017011664.2:c.1A>G XP_016867153.1:p.Met1Val
XM_017011665.1:c.1A>G XP_016867154.1:p.Met1Val
XR_001744525.2:n.1024A>G
XR_002956405.1:n.1166A>G
NM_014251.3:c.853A>G MANE Select NP_055066.1:p.Met285Val
NR_027662.2:n.879A>G
NM_001160210.2:c.853A>G NP_001153682.1:p.Met285Val