Canonical Allele Identifier: CA162991309
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs539304541
gnomAD v3: 7-96184095-T-G
gnomAD v4: 7-96184095-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96184095T>G , CM000669.2:g.96184095T>G GRCh38
NC_000007.13:g.95813407T>G , CM000669.1:g.95813407T>G GRCh37
NC_000007.12:g.95651343T>G NCBI36
NG_012247.1:g.143053A>C
NG_012247.2:g.143053A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.1177+182A>C MANE Select ENSP00000265631.6:n.1177+182A>C
ENST00000265631.9:c.1177+182A>C ENSP00000265631.5:n.1177+182A>C
ENST00000416240.6:c.1180+182A>C ENSP00000400101.2:n.1180+182A>C
ENST00000484495.5:n.330+182A>C
ENST00000490072.5:n.244+182A>C
ENST00000492869.1:n.298+182A>C
NM_001160210.1:c.1180+182A>C NP_001153682.1:n.1180+182A>C
NM_014251.2:c.1177+182A>C NP_055066.1:n.1177+182A>C
NR_027662.1:n.1252+182A>C
XM_006715831.2:c.1210+182A>C XP_006715894.1:n.1210+182A>C
XM_011515727.1:c.1210+182A>C XP_011514029.1:n.1210+182A>C
XM_011515728.1:c.325+182A>C XP_011514030.1:n.325+182A>C
XM_006715831.4:c.1210+182A>C XP_006715894.1:n.1210+182A>C
XM_011515727.3:c.1210+182A>C XP_011514029.1:n.1210+182A>C
XM_017011663.1:c.1168+182A>C XP_016867152.1:n.1168+182A>C
XM_017011664.2:c.325+182A>C XP_016867153.1:n.325+182A>C
XM_017011665.1:c.325+182A>C XP_016867154.1:n.325+182A>C
XR_001744525.2:n.1348+182A>C
XR_002956405.1:n.1981+182A>C
NM_014251.3:c.1177+182A>C MANE Select NP_055066.1:n.1177+182A>C
NR_027662.2:n.1203+182A>C
NM_001160210.2:c.1180+182A>C NP_001153682.1:n.1180+182A>C