Canonical Allele Identifier: CA352205322
Gene: SLC25A38 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394509A>T , CM000665.2:g.39394509A>T GRCh38
NC_000003.11:g.39436000A>T , CM000665.1:g.39436000A>T GRCh37
NC_000003.10:g.39411004A>T NCBI36
NG_016931.1:g.16186A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642683.1:c.677A>T ENSP00000495376.1:p.Lys226Ile
ENST00000643672.1:c.674A>T ENSP00000494532.1:p.Lys225Ile
ENST00000645280.1:c.671A>T ENSP00000496690.1:p.Lys224Ile
ENST00000648579.1:c.*22A>T ENSP00000497638.1:n.*22A>T
ENST00000650617.1:c.725A>T MANE Select ENSP00000497532.1:p.Lys242Ile
ENST00000273158.8:c.725A>T ENSP00000273158.3:p.Lys242Ile
NM_017875.2:c.725A>T NP_060345.2:p.Lys242Ile
XM_006713214.1:c.713A>T XP_006713277.1:p.Lys238Ile
XM_011533869.1:c.707A>T XP_011532171.1:p.Lys236Ile
XM_011533870.1:c.674A>T XP_011532172.1:p.Lys225Ile
XM_011533871.1:c.545A>T XP_011532173.1:p.Lys182Ile
NM_001354798.1:c.626-1889A>T NP_001341727.1:n.626-1889A>T
NM_017875.4:c.725A>T MANE Select NP_060345.2:p.Lys242Ile
XM_006713214.2:c.713A>T XP_006713277.1:p.Lys238Ile
XM_011533869.2:c.707A>T XP_011532171.1:p.Lys236Ile
XM_024453611.1:c.671A>T XP_024309379.1:p.Lys224Ile
NM_001354798.2:c.626-1889A>T NP_001341727.1:n.626-1889A>T