Canonical Allele Identifier: CA352207744
Community Standard Title: NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39396518T>C , CM000665.2:g.39396518T>C GRCh38
NC_000003.11:g.39438009T>C , CM000665.1:g.39438009T>C GRCh37
NC_000003.10:g.39413013T>C NCBI36
NG_016931.1:g.18195T>C

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.913T>C MANE Select NP_060345.2:p.Ter305Arg
ENST00000650617.1:c.913T>C MANE Select ENSP00000497532.1:p.Ter305Arg
NM_001354798.1:c.*32T>C NP_001341727.1:n.*32T>C
NM_001354798.2:c.*32T>C NP_001341727.1:n.*32T>C
NM_017875.2:c.913T>C NP_060345.2:p.Ter305Arg
ENST00000273158.8:c.913T>C ENSP00000273158.3:p.Ter305Arg
ENST00000643672.1:c.862T>C ENSP00000494532.1:p.Ter288Arg
ENST00000645280.1:c.859T>C ENSP00000496690.1:p.Ter287Arg
ENST00000648579.1:c.*210T>C ENSP00000497638.1:n.*210T>C
XM_006713214.1:c.901T>C XP_006713277.1:p.Ter301Arg
XM_006713214.2:c.901T>C XP_006713277.1:p.Ter301Arg
XM_011533869.1:c.895T>C XP_011532171.1:p.Ter299Arg
XM_011533869.2:c.895T>C XP_011532171.1:p.Ter299Arg
XM_011533870.1:c.862T>C XP_011532172.1:p.Ter288Arg
XM_011533871.1:c.733T>C XP_011532173.1:p.Ter245Arg
XM_024453611.1:c.859T>C XP_024309379.1:p.Ter287Arg