Canonical Allele Identifier: CA162995545
Community Standard Title: NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)
Gene: SLC25A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96191109C>T , CM000669.2:g.96191109C>T GRCh38
NC_000007.13:g.95820421C>T , CM000669.1:g.95820421C>T GRCh37
NC_000007.12:g.95658357C>T NCBI36
NG_012247.1:g.136039G>A
NG_012247.2:g.136039G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014251.3:c.754G>A MANE Select NP_055066.1:p.Glu252Lys
ENST00000265631.10:c.754G>A MANE Select ENSP00000265631.6:p.Glu252Lys
NM_001160210.1:c.754G>A NP_001153682.1:p.Glu252Lys
NM_001160210.2:c.754G>A NP_001153682.1:p.Glu252Lys
NM_014251.2:c.754G>A NP_055066.1:p.Glu252Lys
NR_027662.1:n.829G>A
NR_027662.2:n.780G>A
ENST00000265631.9:c.754G>A ENSP00000265631.5:p.Glu252Lys
ENST00000416240.6:c.754G>A ENSP00000400101.2:p.Glu252Lys
XM_006715831.2:c.787G>A XP_006715894.1:p.Glu263Lys
XM_006715831.4:c.787G>A XP_006715894.1:p.Glu263Lys
XM_011515727.1:c.787G>A XP_011514029.1:p.Glu263Lys
XM_011515727.3:c.787G>A XP_011514029.1:p.Glu263Lys
XM_011515728.1:c.-5G>A XP_011514030.1:n.-5G>A
XM_017011663.1:c.745G>A XP_016867152.1:p.Glu249Lys
XM_017011664.2:c.-5G>A XP_016867153.1:n.-5G>A
XM_017011665.1:c.-5G>A XP_016867154.1:n.-5G>A
XR_001744525.2:n.925G>A
XR_002956405.1:n.1067G>A