Canonical Allele Identifier: CA162992445
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs770496018
gnomAD v2: 7-95751147-A-C
gnomAD v4: 7-96121835-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121835A>C , CM000669.2:g.96121835A>C GRCh38
NC_000007.13:g.95751147A>C , CM000669.1:g.95751147A>C GRCh37
NC_000007.12:g.95589083A>C NCBI36
NG_012247.1:g.205313T>G
NG_012247.2:g.205313T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.1750+4T>G MANE Select ENSP00000265631.6:n.1750+4T>G
ENST00000265631.9:c.1750+4T>G ENSP00000265631.5:n.1750+4T>G
ENST00000416240.6:c.1753+4T>G ENSP00000400101.2:n.1753+4T>G
ENST00000494085.1:n.164T>G
NM_001160210.1:c.1753+4T>G NP_001153682.1:n.1753+4T>G
NM_014251.2:c.1750+4T>G NP_055066.1:n.1750+4T>G
NR_027662.1:n.1825+4T>G
XM_006715831.2:c.1783+4T>G XP_006715894.1:n.1783+4T>G
XM_011515728.1:c.898+4T>G XP_011514030.1:n.898+4T>G
XM_006715831.4:c.1783+4T>G XP_006715894.1:n.1783+4T>G
XM_017011663.1:c.1741+4T>G XP_016867152.1:n.1741+4T>G
XM_017011664.2:c.898+4T>G XP_016867153.1:n.898+4T>G
XM_017011665.1:c.898+4T>G XP_016867154.1:n.898+4T>G
XR_001744525.2:n.1996+4T>G
XR_002956405.1:n.2554+4T>G
NM_014251.3:c.1750+4T>G MANE Select NP_055066.1:n.1750+4T>G
NR_027662.2:n.1776+4T>G
NM_001160210.2:c.1753+4T>G NP_001153682.1:n.1753+4T>G