Canonical Allele Identifier: CA576707773
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs536979432
gnomAD v2: 7-95818524-G-A
gnomAD v3: 7-96189212-G-A
gnomAD v4: 7-96189212-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189212G>A , CM000669.2:g.96189212G>A GRCh38
NC_000007.13:g.95818524G>A , CM000669.1:g.95818524G>A GRCh37
NC_000007.12:g.95656460G>A NCBI36
NG_012247.1:g.137936C>T
NG_012247.2:g.137936C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.933+82C>T MANE Select ENSP00000265631.6:n.933+82C>T
ENST00000265631.9:c.933+82C>T ENSP00000265631.5:n.933+82C>T
ENST00000416240.6:c.933+82C>T ENSP00000400101.2:n.933+82C>T
ENST00000484495.5:n.86+82C>T
NM_001160210.1:c.933+82C>T NP_001153682.1:n.933+82C>T
NM_014251.2:c.933+82C>T NP_055066.1:n.933+82C>T
NR_027662.1:n.1008+82C>T
XM_006715831.2:c.966+82C>T XP_006715894.1:n.966+82C>T
XM_011515727.1:c.966+82C>T XP_011514029.1:n.966+82C>T
XM_011515728.1:c.81+82C>T XP_011514030.1:n.81+82C>T
XM_006715831.4:c.966+82C>T XP_006715894.1:n.966+82C>T
XM_011515727.3:c.966+82C>T XP_011514029.1:n.966+82C>T
XM_017011663.1:c.924+82C>T XP_016867152.1:n.924+82C>T
XM_017011664.2:c.81+82C>T XP_016867153.1:n.81+82C>T
XM_017011665.1:c.81+82C>T XP_016867154.1:n.81+82C>T
XR_001744525.2:n.1104+82C>T
XR_002956405.1:n.1246+82C>T
NM_014251.3:c.933+82C>T MANE Select NP_055066.1:n.933+82C>T
NR_027662.2:n.959+82C>T
NM_001160210.2:c.933+82C>T NP_001153682.1:n.933+82C>T