Canonical Allele Identifier: CA352199018
Community Standard Title: NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.166C>A MANE Select NP_060345.2:p.Gln56Lys
ENST00000650617.1:c.166C>A MANE Select ENSP00000497532.1:p.Gln56Lys
NM_001354798.1:c.166C>A NP_001341727.1:p.Gln56Lys
NM_001354798.2:c.166C>A NP_001341727.1:p.Gln56Lys
NM_017875.2:c.166C>A NP_060345.2:p.Gln56Lys
ENST00000273158.8:c.166C>A ENSP00000273158.3:p.Gln56Lys
ENST00000431510.1:c.154C>A ENSP00000394244.1:p.Gln52Lys
ENST00000642442.1:n.227C>A
ENST00000642683.1:c.166C>A ENSP00000495376.1:p.Gln56Lys
ENST00000642978.1:c.148C>A ENSP00000494342.1:p.Gln50Lys
ENST00000643672.1:c.115C>A ENSP00000494532.1:p.Gln39Lys
ENST00000645280.1:c.112C>A ENSP00000496690.1:p.Gln38Lys
ENST00000645630.1:c.166C>A ENSP00000493714.1:p.Gln56Lys
ENST00000648579.1:c.166C>A ENSP00000497638.1:p.Gln56Lys
XM_006713214.1:c.154C>A XP_006713277.1:p.Gln52Lys
XM_006713214.2:c.154C>A XP_006713277.1:p.Gln52Lys
XM_011533869.1:c.148C>A XP_011532171.1:p.Gln50Lys
XM_011533869.2:c.148C>A XP_011532171.1:p.Gln50Lys
XM_011533870.1:c.115C>A XP_011532172.1:p.Gln39Lys
XM_011533871.1:c.166C>A XP_011532173.1:p.Gln56Lys
XM_024453611.1:c.112C>A XP_024309379.1:p.Gln38Lys