Canonical Allele Identifier: CA2327491
Community Standard Title: NM_017875.4(SLC25A38):c.525G>C (p.Arg175=)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39391921G>C , CM000665.2:g.39391921G>C GRCh38
NC_000003.11:g.39433412G>C , CM000665.1:g.39433412G>C GRCh37
NC_000003.10:g.39408416G>C NCBI36
NG_016931.1:g.13598G>C

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.525G>C MANE Select NP_060345.2:p.Arg175=
ENST00000650617.1:c.525G>C MANE Select ENSP00000497532.1:p.Arg175=
NM_001354798.1:c.525G>C NP_001341727.1:p.Arg175=
NM_001354798.2:c.525G>C NP_001341727.1:p.Arg175=
NM_017875.2:c.525G>C NP_060345.2:p.Arg175=
ENST00000273158.8:c.525G>C ENSP00000273158.3:p.Arg175=
ENST00000642683.1:c.477G>C ENSP00000495376.1:p.Arg159=
ENST00000643672.1:c.474G>C ENSP00000494532.1:p.Arg158=
ENST00000645280.1:c.471G>C ENSP00000496690.1:p.Arg157=
ENST00000645630.1:c.345G>C ENSP00000493714.1:p.Arg115=
ENST00000648579.1:c.525G>C ENSP00000497638.1:p.Arg175=
XM_006713214.1:c.513G>C XP_006713277.1:p.Arg171=
XM_006713214.2:c.513G>C XP_006713277.1:p.Arg171=
XM_011533869.1:c.507G>C XP_011532171.1:p.Arg169=
XM_011533869.2:c.507G>C XP_011532171.1:p.Arg169=
XM_011533870.1:c.474G>C XP_011532172.1:p.Arg158=
XM_011533871.1:c.345G>C XP_011532173.1:p.Arg115=
XM_024453611.1:c.471G>C XP_024309379.1:p.Arg157=