Canonical Allele Identifier: CA352205422
Gene: SLC25A38 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394524T>C , CM000665.2:g.39394524T>C GRCh38
NC_000003.11:g.39436015T>C , CM000665.1:g.39436015T>C GRCh37
NC_000003.10:g.39411019T>C NCBI36
NG_016931.1:g.16201T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642683.1:c.692T>C ENSP00000495376.1:p.Leu231Pro
ENST00000643672.1:c.689T>C ENSP00000494532.1:p.Leu230Pro
ENST00000645280.1:c.686T>C ENSP00000496690.1:p.Leu229Pro
ENST00000648579.1:c.*37T>C ENSP00000497638.1:n.*37T>C
ENST00000650617.1:c.740T>C MANE Select ENSP00000497532.1:p.Leu247Pro
ENST00000273158.8:c.740T>C ENSP00000273158.3:p.Leu247Pro
NM_017875.2:c.740T>C NP_060345.2:p.Leu247Pro
XM_006713214.1:c.728T>C XP_006713277.1:p.Leu243Pro
XM_011533869.1:c.722T>C XP_011532171.1:p.Leu241Pro
XM_011533870.1:c.689T>C XP_011532172.1:p.Leu230Pro
XM_011533871.1:c.560T>C XP_011532173.1:p.Leu187Pro
NM_001354798.1:c.626-1874T>C NP_001341727.1:n.626-1874T>C
NM_017875.4:c.740T>C MANE Select NP_060345.2:p.Leu247Pro
XM_006713214.2:c.728T>C XP_006713277.1:p.Leu243Pro
XM_011533869.2:c.722T>C XP_011532171.1:p.Leu241Pro
XM_024453611.1:c.686T>C XP_024309379.1:p.Leu229Pro
NM_001354798.2:c.626-1874T>C NP_001341727.1:n.626-1874T>C