Canonical Allele Identifier: CA352203583
Community Standard Title: NM_017875.4(SLC25A38):c.559C>T (p.Arg187Ter)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39391955C>T , CM000665.2:g.39391955C>T GRCh38
NC_000003.11:g.39433446C>T , CM000665.1:g.39433446C>T GRCh37
NC_000003.10:g.39408450C>T NCBI36
NG_016931.1:g.13632C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.559C>T MANE Select NP_060345.2:p.Arg187Ter
ENST00000650617.1:c.559C>T MANE Select ENSP00000497532.1:p.Arg187Ter
NM_001354798.1:c.559C>T NP_001341727.1:p.Arg187Ter
NM_001354798.2:c.559C>T NP_001341727.1:p.Arg187Ter
NM_017875.2:c.559C>T NP_060345.2:p.Arg187Ter
ENST00000273158.8:c.559C>T ENSP00000273158.3:p.Arg187Ter
ENST00000642683.1:c.511C>T ENSP00000495376.1:p.Arg171Ter
ENST00000643672.1:c.508C>T ENSP00000494532.1:p.Arg170Ter
ENST00000645280.1:c.505C>T ENSP00000496690.1:p.Arg169Ter
ENST00000645630.1:c.379C>T ENSP00000493714.1:p.Arg127Ter
ENST00000648579.1:c.559C>T ENSP00000497638.1:p.Arg187Ter
XM_006713214.1:c.547C>T XP_006713277.1:p.Arg183Ter
XM_006713214.2:c.547C>T XP_006713277.1:p.Arg183Ter
XM_011533869.1:c.541C>T XP_011532171.1:p.Arg181Ter
XM_011533869.2:c.541C>T XP_011532171.1:p.Arg181Ter
XM_011533870.1:c.508C>T XP_011532172.1:p.Arg170Ter
XM_011533871.1:c.379C>T XP_011532173.1:p.Arg127Ter
XM_024453611.1:c.505C>T XP_024309379.1:p.Arg169Ter