Canonical Allele Identifier: CA352207003
Community Standard Title: NM_017875.4(SLC25A38):c.793-1G>C
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39396397G>C , CM000665.2:g.39396397G>C GRCh38
NC_000003.11:g.39437888G>C , CM000665.1:g.39437888G>C GRCh37
NC_000003.10:g.39412892G>C NCBI36
NG_016931.1:g.18074G>C

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.793-1G>C MANE Select NP_060345.2:n.793-1G>C
ENST00000650617.1:c.793-1G>C MANE Select ENSP00000497532.1:n.793-1G>C
NM_001354798.1:c.626-1G>C NP_001341727.1:n.626-1G>C
NM_001354798.2:c.626-1G>C NP_001341727.1:n.626-1G>C
NM_017875.2:c.793-1G>C NP_060345.2:n.793-1G>C
ENST00000273158.8:c.793-1G>C ENSP00000273158.3:n.793-1G>C
ENST00000643672.1:c.742-1G>C ENSP00000494532.1:n.742-1G>C
ENST00000645280.1:c.739-1G>C ENSP00000496690.1:n.739-1G>C
ENST00000648579.1:c.*90-1G>C ENSP00000497638.1:n.*90-1G>C
XM_006713214.1:c.781-1G>C XP_006713277.1:n.781-1G>C
XM_006713214.2:c.781-1G>C XP_006713277.1:n.781-1G>C
XM_011533869.1:c.775-1G>C XP_011532171.1:n.775-1G>C
XM_011533869.2:c.775-1G>C XP_011532171.1:n.775-1G>C
XM_011533870.1:c.742-1G>C XP_011532172.1:n.742-1G>C
XM_011533871.1:c.613-1G>C XP_011532173.1:n.613-1G>C
XM_024453611.1:c.739-1G>C XP_024309379.1:n.739-1G>C