Canonical Allele Identifier: CA16042496
Community Standard Title: NM_017875.4(SLC25A38):c.166C>T (p.Gln56Ter)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39389591C>T , CM000665.2:g.39389591C>T GRCh38
NC_000003.11:g.39431082C>T , CM000665.1:g.39431082C>T GRCh37
NC_000003.10:g.39406086C>T NCBI36
NG_016931.1:g.11268C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.166C>T MANE Select NP_060345.2:p.Gln56Ter
ENST00000650617.1:c.166C>T MANE Select ENSP00000497532.1:p.Gln56Ter
NM_001354798.1:c.166C>T NP_001341727.1:p.Gln56Ter
NM_001354798.2:c.166C>T NP_001341727.1:p.Gln56Ter
NM_017875.2:c.166C>T NP_060345.2:p.Gln56Ter
ENST00000273158.8:c.166C>T ENSP00000273158.3:p.Gln56Ter
ENST00000431510.1:c.154C>T ENSP00000394244.1:p.Gln52Ter
ENST00000642442.1:n.227C>T
ENST00000642683.1:c.166C>T ENSP00000495376.1:p.Gln56Ter
ENST00000642978.1:c.148C>T ENSP00000494342.1:p.Gln50Ter
ENST00000643672.1:c.115C>T ENSP00000494532.1:p.Gln39Ter
ENST00000645280.1:c.112C>T ENSP00000496690.1:p.Gln38Ter
ENST00000645630.1:c.166C>T ENSP00000493714.1:p.Gln56Ter
ENST00000648579.1:c.166C>T ENSP00000497638.1:p.Gln56Ter
XM_006713214.1:c.154C>T XP_006713277.1:p.Gln52Ter
XM_006713214.2:c.154C>T XP_006713277.1:p.Gln52Ter
XM_011533869.1:c.148C>T XP_011532171.1:p.Gln50Ter
XM_011533869.2:c.148C>T XP_011532171.1:p.Gln50Ter
XM_011533870.1:c.115C>T XP_011532172.1:p.Gln39Ter
XM_011533871.1:c.166C>T XP_011532173.1:p.Gln56Ter
XM_024453611.1:c.112C>T XP_024309379.1:p.Gln38Ter