Canonical Allele Identifier: CA352205099
Gene: SLC25A38 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394482T>G , CM000665.2:g.39394482T>G GRCh38
NC_000003.11:g.39435973T>G , CM000665.1:g.39435973T>G GRCh37
NC_000003.10:g.39410977T>G NCBI36
NG_016931.1:g.16159T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000642683.1:c.650T>G ENSP00000495376.1:p.Leu217Arg
ENST00000643672.1:c.647T>G ENSP00000494532.1:p.Leu216Arg
ENST00000645280.1:c.644T>G ENSP00000496690.1:p.Leu215Arg
ENST00000648579.1:c.754T>G ENSP00000497638.1:p.Trp252Gly
ENST00000650617.1:c.698T>G MANE Select ENSP00000497532.1:p.Leu233Arg
ENST00000273158.8:c.698T>G ENSP00000273158.3:p.Leu233Arg
NM_017875.2:c.698T>G NP_060345.2:p.Leu233Arg
XM_006713214.1:c.686T>G XP_006713277.1:p.Leu229Arg
XM_011533869.1:c.680T>G XP_011532171.1:p.Leu227Arg
XM_011533870.1:c.647T>G XP_011532172.1:p.Leu216Arg
XM_011533871.1:c.518T>G XP_011532173.1:p.Leu173Arg
NM_001354798.1:c.626-1916T>G NP_001341727.1:n.626-1916T>G
NM_017875.4:c.698T>G MANE Select NP_060345.2:p.Leu233Arg
XM_006713214.2:c.686T>G XP_006713277.1:p.Leu229Arg
XM_011533869.2:c.680T>G XP_011532171.1:p.Leu227Arg
XM_024453611.1:c.644T>G XP_024309379.1:p.Leu215Arg
NM_001354798.2:c.626-1916T>G NP_001341727.1:n.626-1916T>G