Canonical Allele Identifier: CA352201660
Community Standard Title: NM_017875.4(SLC25A38):c.454G>T (p.Glu152Ter)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39391618G>T , CM000665.2:g.39391618G>T GRCh38
NC_000003.11:g.39433109G>T , CM000665.1:g.39433109G>T GRCh37
NC_000003.10:g.39408113G>T NCBI36
NG_016931.1:g.13295G>T

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.454G>T MANE Select NP_060345.2:p.Glu152Ter
ENST00000650617.1:c.454G>T MANE Select ENSP00000497532.1:p.Glu152Ter
NM_001354798.1:c.454G>T NP_001341727.1:p.Glu152Ter
NM_001354798.2:c.454G>T NP_001341727.1:p.Glu152Ter
NM_017875.2:c.454G>T NP_060345.2:p.Glu152Ter
ENST00000273158.8:c.454G>T ENSP00000273158.3:p.Glu152Ter
ENST00000431510.1:c.442G>T ENSP00000394244.1:p.Glu148Ter
ENST00000642683.1:c.406G>T ENSP00000495376.1:p.Glu136Ter
ENST00000643672.1:c.403G>T ENSP00000494532.1:p.Glu135Ter
ENST00000645280.1:c.400G>T ENSP00000496690.1:p.Glu134Ter
ENST00000645630.1:c.277-235G>T ENSP00000493714.1:n.277-235G>T
ENST00000648579.1:c.454G>T ENSP00000497638.1:p.Glu152Ter
XM_006713214.1:c.442G>T XP_006713277.1:p.Glu148Ter
XM_006713214.2:c.442G>T XP_006713277.1:p.Glu148Ter
XM_011533869.1:c.436G>T XP_011532171.1:p.Glu146Ter
XM_011533869.2:c.436G>T XP_011532171.1:p.Glu146Ter
XM_011533870.1:c.403G>T XP_011532172.1:p.Glu135Ter
XM_011533871.1:c.277-235G>T XP_011532173.1:n.277-235G>T
XM_024453611.1:c.400G>T XP_024309379.1:p.Glu134Ter