Canonical Allele Identifier: CA16042703
Gene: SLC25A13 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96184990G>A , CM000669.2:g.96184990G>A GRCh38
NC_000007.13:g.95814302G>A , CM000669.1:g.95814302G>A GRCh37
NC_000007.12:g.95652238G>A NCBI36
NG_012247.1:g.142158C>T
NG_012247.2:g.142158C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.955C>T MANE Select ENSP00000265631.6:p.Arg319Ter
ENST00000265631.9:c.955C>T ENSP00000265631.5:p.Arg319Ter
ENST00000416240.6:c.958C>T ENSP00000400101.2:p.Arg320Ter
ENST00000484495.5:n.108C>T
ENST00000490072.5:n.22C>T
NM_001160210.1:c.958C>T NP_001153682.1:p.Arg320Ter
NM_014251.2:c.955C>T NP_055066.1:p.Arg319Ter
NR_027662.1:n.1030C>T
XM_006715831.2:c.988C>T XP_006715894.1:p.Arg330Ter
XM_011515727.1:c.988C>T XP_011514029.1:p.Arg330Ter
XM_011515728.1:c.103C>T XP_011514030.1:p.Arg35Ter
XM_006715831.4:c.988C>T XP_006715894.1:p.Arg330Ter
XM_011515727.3:c.988C>T XP_011514029.1:p.Arg330Ter
XM_017011663.1:c.946C>T XP_016867152.1:p.Arg316Ter
XM_017011664.2:c.103C>T XP_016867153.1:p.Arg35Ter
XM_017011665.1:c.103C>T XP_016867154.1:p.Arg35Ter
XR_001744525.2:n.1126C>T
XR_002956405.1:n.1268C>T
NM_014251.3:c.955C>T MANE Select NP_055066.1:p.Arg319Ter
NR_027662.2:n.981C>T
NM_001160210.2:c.958C>T NP_001153682.1:p.Arg320Ter