Canonical Allele Identifier: CA2327564
Community Standard Title: NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39396437C>T , CM000665.2:g.39396437C>T GRCh38
NC_000003.11:g.39437928C>T , CM000665.1:g.39437928C>T GRCh37
NC_000003.10:g.39412932C>T NCBI36
NG_016931.1:g.18114C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.832C>T MANE Select NP_060345.2:p.Arg278Ter
ENST00000650617.1:c.832C>T MANE Select ENSP00000497532.1:p.Arg278Ter
NM_001354798.1:c.665C>T NP_001341727.1:p.Pro222Leu
NM_001354798.2:c.665C>T NP_001341727.1:p.Pro222Leu
NM_017875.2:c.832C>T NP_060345.2:p.Arg278Ter
ENST00000273158.8:c.832C>T ENSP00000273158.3:p.Arg278Ter
ENST00000643672.1:c.781C>T ENSP00000494532.1:p.Arg261Ter
ENST00000645280.1:c.778C>T ENSP00000496690.1:p.Arg260Ter
ENST00000648579.1:c.*129C>T ENSP00000497638.1:n.*129C>T
XM_006713214.1:c.820C>T XP_006713277.1:p.Arg274Ter
XM_006713214.2:c.820C>T XP_006713277.1:p.Arg274Ter
XM_011533869.1:c.814C>T XP_011532171.1:p.Arg272Ter
XM_011533869.2:c.814C>T XP_011532171.1:p.Arg272Ter
XM_011533870.1:c.781C>T XP_011532172.1:p.Arg261Ter
XM_011533871.1:c.652C>T XP_011532173.1:p.Arg218Ter
XM_024453611.1:c.778C>T XP_024309379.1:p.Arg260Ter