Canonical Allele Identifier: CA4352952

Gene: SLC25A13

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96146654C>T , CM000669.2:g.96146654C>T	GRCh38
NC_000007.13:g.95775966C>T , CM000669.1:g.95775966C>T	GRCh37
NC_000007.12:g.95613902C>T	NCBI36
NG_012247.1:g.180494G>A
NG_012247.2:g.180494G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014251.3:c.1354G>A MANE Select	NP_055066.1:p.Val452Ile
ENST00000265631.10:c.1354G>A MANE Select	ENSP00000265631.6:p.Val452Ile
NM_001160210.1:c.1357G>A	NP_001153682.1:p.Val453Ile
NM_001160210.2:c.1357G>A	NP_001153682.1:p.Val453Ile
NM_014251.2:c.1354G>A	NP_055066.1:p.Val452Ile
NR_027662.1:n.1429G>A
NR_027662.2:n.1380G>A
ENST00000265631.9:c.1354G>A	ENSP00000265631.5:p.Val452Ile
ENST00000416240.6:c.1357G>A	ENSP00000400101.2:p.Val453Ile
ENST00000490072.5:n.478G>A
XM_006715831.2:c.1387G>A	XP_006715894.1:p.Val463Ile
XM_006715831.4:c.1387G>A	XP_006715894.1:p.Val463Ile
XM_011515727.1:c.*91G>A	XP_011514029.1:n.*91G>A
XM_011515727.3:c.*91G>A	XP_011514029.1:n.*91G>A
XM_011515728.1:c.502G>A	XP_011514030.1:p.Val168Ile
XM_017011663.1:c.1345G>A	XP_016867152.1:p.Val449Ile
XM_017011664.2:c.502G>A	XP_016867153.1:p.Val168Ile
XM_017011665.1:c.502G>A	XP_016867154.1:p.Val168Ile
XR_001744525.2:n.1600G>A
XR_002956405.1:n.2158G>A