Canonical Allele Identifier: CA352196583
Community Standard Title: NM_017875.4(SLC25A38):c.14C>G (p.Ser5Ter)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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