Canonical Allele Identifier: CA352203595
Community Standard Title: NM_017875.4(SLC25A38):c.562G>C (p.Asp188His)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39391958G>C , CM000665.2:g.39391958G>C GRCh38
NC_000003.11:g.39433449G>C , CM000665.1:g.39433449G>C GRCh37
NC_000003.10:g.39408453G>C NCBI36
NG_016931.1:g.13635G>C

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.562G>C MANE Select NP_060345.2:p.Asp188His
ENST00000650617.1:c.562G>C MANE Select ENSP00000497532.1:p.Asp188His
NM_001354798.1:c.562G>C NP_001341727.1:p.Asp188His
NM_001354798.2:c.562G>C NP_001341727.1:p.Asp188His
NM_017875.2:c.562G>C NP_060345.2:p.Asp188His
ENST00000273158.8:c.562G>C ENSP00000273158.3:p.Asp188His
ENST00000642683.1:c.514G>C ENSP00000495376.1:p.Asp172His
ENST00000643672.1:c.511G>C ENSP00000494532.1:p.Asp171His
ENST00000645280.1:c.508G>C ENSP00000496690.1:p.Asp170His
ENST00000645630.1:c.382G>C ENSP00000493714.1:p.Asp128His
ENST00000648579.1:c.562G>C ENSP00000497638.1:p.Asp188His
XM_006713214.1:c.550G>C XP_006713277.1:p.Asp184His
XM_006713214.2:c.550G>C XP_006713277.1:p.Asp184His
XM_011533869.1:c.544G>C XP_011532171.1:p.Asp182His
XM_011533869.2:c.544G>C XP_011532171.1:p.Asp182His
XM_011533870.1:c.511G>C XP_011532172.1:p.Asp171His
XM_011533871.1:c.382G>C XP_011532173.1:p.Asp128His
XM_024453611.1:c.508G>C XP_024309379.1:p.Asp170His