Canonical Allele Identifier: CA352203641
Community Standard Title: NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39391965C>G , CM000665.2:g.39391965C>G GRCh38
NC_000003.11:g.39433456C>G , CM000665.1:g.39433456C>G GRCh37
NC_000003.10:g.39408460C>G NCBI36
NG_016931.1:g.13642C>G

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.569C>G MANE Select NP_060345.2:p.Pro190Arg
ENST00000650617.1:c.569C>G MANE Select ENSP00000497532.1:p.Pro190Arg
NM_001354798.1:c.569C>G NP_001341727.1:p.Pro190Arg
NM_001354798.2:c.569C>G NP_001341727.1:p.Pro190Arg
NM_017875.2:c.569C>G NP_060345.2:p.Pro190Arg
ENST00000273158.8:c.569C>G ENSP00000273158.3:p.Pro190Arg
ENST00000642683.1:c.521C>G ENSP00000495376.1:p.Pro174Arg
ENST00000643672.1:c.518C>G ENSP00000494532.1:p.Pro173Arg
ENST00000645280.1:c.515C>G ENSP00000496690.1:p.Pro172Arg
ENST00000645630.1:c.389C>G ENSP00000493714.1:p.Pro130Arg
ENST00000648579.1:c.569C>G ENSP00000497638.1:p.Pro190Arg
XM_006713214.1:c.557C>G XP_006713277.1:p.Pro186Arg
XM_006713214.2:c.557C>G XP_006713277.1:p.Pro186Arg
XM_011533869.1:c.551C>G XP_011532171.1:p.Pro184Arg
XM_011533869.2:c.551C>G XP_011532171.1:p.Pro184Arg
XM_011533870.1:c.518C>G XP_011532172.1:p.Pro173Arg
XM_011533871.1:c.389C>G XP_011532173.1:p.Pro130Arg
XM_024453611.1:c.515C>G XP_024309379.1:p.Pro172Arg