Canonical Allele Identifier: CA4352932
Community Standard Title: NM_014251.3(SLC25A13):c.1419C>T (p.Val473=)
Gene: SLC25A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96146589G>A , CM000669.2:g.96146589G>A GRCh38
NC_000007.13:g.95775901G>A , CM000669.1:g.95775901G>A GRCh37
NC_000007.12:g.95613837G>A NCBI36
NG_012247.1:g.180559C>T
NG_012247.2:g.180559C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014251.3:c.1419C>T MANE Select NP_055066.1:p.Val473=
ENST00000265631.10:c.1419C>T MANE Select ENSP00000265631.6:p.Val473=
NM_001160210.1:c.1422C>T NP_001153682.1:p.Val474=
NM_001160210.2:c.1422C>T NP_001153682.1:p.Val474=
NM_014251.2:c.1419C>T NP_055066.1:p.Val473=
NR_027662.1:n.1494C>T
NR_027662.2:n.1445C>T
ENST00000265631.9:c.1419C>T ENSP00000265631.5:p.Val473=
ENST00000416240.6:c.1422C>T ENSP00000400101.2:p.Val474=
ENST00000490072.5:n.543C>T
XM_006715831.2:c.1452C>T XP_006715894.1:p.Val484=
XM_006715831.4:c.1452C>T XP_006715894.1:p.Val484=
XM_011515728.1:c.567C>T XP_011514030.1:p.Val189=
XM_017011663.1:c.1410C>T XP_016867152.1:p.Val470=
XM_017011664.2:c.567C>T XP_016867153.1:p.Val189=
XM_017011665.1:c.567C>T XP_016867154.1:p.Val189=
XR_001744525.2:n.1665C>T
XR_002956405.1:n.2223C>T