Canonical Allele Identifier: CA576707774
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs1257100382
gnomAD v2: 7-95818537-C-T
gnomAD v3: 7-96189225-C-T
gnomAD v4: 7-96189225-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189225C>T , CM000669.2:g.96189225C>T GRCh38
NC_000007.13:g.95818537C>T , CM000669.1:g.95818537C>T GRCh37
NC_000007.12:g.95656473C>T NCBI36
NG_012247.1:g.137923G>A
NG_012247.2:g.137923G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.933+69G>A MANE Select ENSP00000265631.6:n.933+69G>A
ENST00000265631.9:c.933+69G>A ENSP00000265631.5:n.933+69G>A
ENST00000416240.6:c.933+69G>A ENSP00000400101.2:n.933+69G>A
ENST00000484495.5:n.86+69G>A
NM_001160210.1:c.933+69G>A NP_001153682.1:n.933+69G>A
NM_014251.2:c.933+69G>A NP_055066.1:n.933+69G>A
NR_027662.1:n.1008+69G>A
XM_006715831.2:c.966+69G>A XP_006715894.1:n.966+69G>A
XM_011515727.1:c.966+69G>A XP_011514029.1:n.966+69G>A
XM_011515728.1:c.81+69G>A XP_011514030.1:n.81+69G>A
XM_006715831.4:c.966+69G>A XP_006715894.1:n.966+69G>A
XM_011515727.3:c.966+69G>A XP_011514029.1:n.966+69G>A
XM_017011663.1:c.924+69G>A XP_016867152.1:n.924+69G>A
XM_017011664.2:c.81+69G>A XP_016867153.1:n.81+69G>A
XM_017011665.1:c.81+69G>A XP_016867154.1:n.81+69G>A
XR_001744525.2:n.1104+69G>A
XR_002956405.1:n.1246+69G>A
NM_014251.3:c.933+69G>A MANE Select NP_055066.1:n.933+69G>A
NR_027662.2:n.959+69G>A
NM_001160210.2:c.933+69G>A NP_001153682.1:n.933+69G>A