Canonical Allele Identifier: CA352204961
Gene: SLC25A38 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394463G>C , CM000665.2:g.39394463G>C GRCh38
NC_000003.11:g.39435954G>C , CM000665.1:g.39435954G>C GRCh37
NC_000003.10:g.39410958G>C NCBI36
NG_016931.1:g.16140G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642683.1:c.631G>C ENSP00000495376.1:p.Ala211Pro
ENST00000643672.1:c.628G>C ENSP00000494532.1:p.Ala210Pro
ENST00000645280.1:c.625G>C ENSP00000496690.1:p.Ala209Pro
ENST00000648579.1:c.735G>C ENSP00000497638.1:p.Leu245Phe
ENST00000650617.1:c.679G>C MANE Select ENSP00000497532.1:p.Ala227Pro
ENST00000273158.8:c.679G>C ENSP00000273158.3:p.Ala227Pro
NM_017875.2:c.679G>C NP_060345.2:p.Ala227Pro
XM_006713214.1:c.667G>C XP_006713277.1:p.Ala223Pro
XM_011533869.1:c.661G>C XP_011532171.1:p.Ala221Pro
XM_011533870.1:c.628G>C XP_011532172.1:p.Ala210Pro
XM_011533871.1:c.499G>C XP_011532173.1:p.Ala167Pro
NM_001354798.1:c.626-1935G>C NP_001341727.1:n.626-1935G>C
NM_017875.4:c.679G>C MANE Select NP_060345.2:p.Ala227Pro
XM_006713214.2:c.667G>C XP_006713277.1:p.Ala223Pro
XM_011533869.2:c.661G>C XP_011532171.1:p.Ala221Pro
XM_024453611.1:c.625G>C XP_024309379.1:p.Ala209Pro
NM_001354798.2:c.626-1935G>C NP_001341727.1:n.626-1935G>C