Canonical Allele Identifier: CA576707793
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs1340915534
gnomAD v2: 7-95750918-A-G
gnomAD v4: 7-96121606-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121606A>G , CM000669.2:g.96121606A>G GRCh38
NC_000007.13:g.95750918A>G , CM000669.1:g.95750918A>G GRCh37
NC_000007.12:g.95588854A>G NCBI36
NG_012247.1:g.205542T>C
NG_012247.2:g.205542T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.1841+49T>C MANE Select ENSP00000265631.6:n.1841+49T>C
ENST00000265631.9:c.1841+49T>C ENSP00000265631.5:n.1841+49T>C
ENST00000416240.6:c.1844+49T>C ENSP00000400101.2:n.1844+49T>C
ENST00000494085.1:n.344+49T>C
NM_001160210.1:c.1844+49T>C NP_001153682.1:n.1844+49T>C
NM_014251.2:c.1841+49T>C NP_055066.1:n.1841+49T>C
NR_027662.1:n.1916+49T>C
XM_006715831.2:c.1874+49T>C XP_006715894.1:n.1874+49T>C
XM_011515728.1:c.989+49T>C XP_011514030.1:n.989+49T>C
XM_006715831.4:c.1874+49T>C XP_006715894.1:n.1874+49T>C
XM_017011663.1:c.1832+49T>C XP_016867152.1:n.1832+49T>C
XM_017011664.2:c.989+49T>C XP_016867153.1:n.989+49T>C
XM_017011665.1:c.989+49T>C XP_016867154.1:n.989+49T>C
XR_001744525.2:n.2087+49T>C
XR_002956405.1:n.2645+49T>C
NM_014251.3:c.1841+49T>C MANE Select NP_055066.1:n.1841+49T>C
NR_027662.2:n.1867+49T>C
NM_001160210.2:c.1844+49T>C NP_001153682.1:n.1844+49T>C