Canonical Allele Identifier: CA352196581
Community Standard Title: NM_017875.4(SLC25A38):c.14C>A (p.Ser5Ter)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39383738C>A , CM000665.2:g.39383738C>A GRCh38
NC_000003.11:g.39425229C>A , CM000665.1:g.39425229C>A GRCh37
NC_000003.10:g.39400233C>A NCBI36
NG_016931.1:g.5415C>A

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.14C>A MANE Select NP_060345.2:p.Ser5Ter
ENST00000650617.1:c.14C>A MANE Select ENSP00000497532.1:p.Ser5Ter
NM_001354798.1:c.14C>A NP_001341727.1:p.Ser5Ter
NM_001354798.2:c.14C>A NP_001341727.1:p.Ser5Ter
NM_017875.2:c.14C>A NP_060345.2:p.Ser5Ter
ENST00000273158.8:c.14C>A ENSP00000273158.3:p.Ser5Ter
ENST00000431510.1:c.-27C>A ENSP00000394244.1:n.-27C>A
ENST00000642683.1:c.14C>A ENSP00000495376.1:p.Ser5Ter
ENST00000645630.1:c.14C>A ENSP00000493714.1:p.Ser5Ter
ENST00000648579.1:c.14C>A ENSP00000497638.1:p.Ser5Ter
XM_006713214.1:c.-27C>A XP_006713277.1:n.-27C>A
XM_006713214.2:c.-27C>A XP_006713277.1:n.-27C>A
XM_011533871.1:c.14C>A XP_011532173.1:p.Ser5Ter