Canonical Allele Identifier: CA4352983
Community Standard Title: NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met)
Gene: SLC25A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96170125C>T , CM000669.2:g.96170125C>T GRCh38
NC_000007.13:g.95799437C>T , CM000669.1:g.95799437C>T GRCh37
NC_000007.12:g.95637373C>T NCBI36
NG_012247.1:g.157023G>A
NG_012247.2:g.157023G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014251.3:c.1231G>A MANE Select NP_055066.1:p.Val411Met
ENST00000265631.10:c.1231G>A MANE Select ENSP00000265631.6:p.Val411Met
NM_001160210.1:c.1234G>A NP_001153682.1:p.Val412Met
NM_001160210.2:c.1234G>A NP_001153682.1:p.Val412Met
NM_014251.2:c.1231G>A NP_055066.1:p.Val411Met
NR_027662.1:n.1306G>A
NR_027662.2:n.1257G>A
ENST00000265631.9:c.1231G>A ENSP00000265631.5:p.Val411Met
ENST00000416240.6:c.1234G>A ENSP00000400101.2:p.Val412Met
ENST00000484495.5:n.384G>A
ENST00000490072.5:n.298G>A
ENST00000492869.1:n.352G>A
XM_006715831.2:c.1264G>A XP_006715894.1:p.Val422Met
XM_006715831.4:c.1264G>A XP_006715894.1:p.Val422Met
XM_011515727.1:c.1264G>A XP_011514029.1:p.Val422Met
XM_011515727.3:c.1264G>A XP_011514029.1:p.Val422Met
XM_011515728.1:c.379G>A XP_011514030.1:p.Val127Met
XM_017011663.1:c.1222G>A XP_016867152.1:p.Val408Met
XM_017011664.2:c.379G>A XP_016867153.1:p.Val127Met
XM_017011665.1:c.379G>A XP_016867154.1:p.Val127Met
XR_001744525.2:n.1402G>A
XR_002956405.1:n.2035G>A