Canonical Allele Identifier: CA368407037
Community Standard Title: NM_014251.3(SLC25A13):c.353A>C (p.Gln118Pro)
Gene: SLC25A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96208953T>G , CM000669.2:g.96208953T>G GRCh38
NC_000007.13:g.95838265T>G , CM000669.1:g.95838265T>G GRCh37
NC_000007.12:g.95676201T>G NCBI36
NG_012247.1:g.118195A>C
NG_012247.2:g.118195A>C

Transcript Alleles

HGVS Amino-acid Change
NM_014251.3:c.353A>C MANE Select NP_055066.1:p.Gln118Pro
ENST00000265631.10:c.353A>C MANE Select ENSP00000265631.6:p.Gln118Pro
NM_001160210.1:c.353A>C NP_001153682.1:p.Gln118Pro
NM_001160210.2:c.353A>C NP_001153682.1:p.Gln118Pro
NM_014251.2:c.353A>C NP_055066.1:p.Gln118Pro
NR_027662.1:n.428A>C
NR_027662.2:n.379A>C
ENST00000265631.9:c.353A>C ENSP00000265631.5:p.Gln118Pro
ENST00000416240.6:c.353A>C ENSP00000400101.2:p.Gln118Pro
ENST00000472162.2:c.*15A>C ENSP00000473505.1:n.*15A>C
XM_006715831.2:c.386A>C XP_006715894.1:p.Gln129Pro
XM_006715831.4:c.386A>C XP_006715894.1:p.Gln129Pro
XM_011515727.1:c.386A>C XP_011514029.1:p.Gln129Pro
XM_011515727.3:c.386A>C XP_011514029.1:p.Gln129Pro
XM_017011663.1:c.344A>C XP_016867152.1:p.Gln115Pro
XM_017011664.2:c.-406A>C XP_016867153.1:n.-406A>C
XM_017011665.1:c.-406A>C XP_016867154.1:n.-406A>C
XR_001744525.2:n.524A>C
XR_002956405.1:n.666A>C