Canonical Allele Identifier: CA352205381
Gene: SLC25A38 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394517A>G , CM000665.2:g.39394517A>G GRCh38
NC_000003.11:g.39436008A>G , CM000665.1:g.39436008A>G GRCh37
NC_000003.10:g.39411012A>G NCBI36
NG_016931.1:g.16194A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642683.1:c.685A>G ENSP00000495376.1:p.Met229Val
ENST00000643672.1:c.682A>G ENSP00000494532.1:p.Met228Val
ENST00000645280.1:c.679A>G ENSP00000496690.1:p.Met227Val
ENST00000648579.1:c.*30A>G ENSP00000497638.1:n.*30A>G
ENST00000650617.1:c.733A>G MANE Select ENSP00000497532.1:p.Met245Val
ENST00000273158.8:c.733A>G ENSP00000273158.3:p.Met245Val
NM_017875.2:c.733A>G NP_060345.2:p.Met245Val
XM_006713214.1:c.721A>G XP_006713277.1:p.Met241Val
XM_011533869.1:c.715A>G XP_011532171.1:p.Met239Val
XM_011533870.1:c.682A>G XP_011532172.1:p.Met228Val
XM_011533871.1:c.553A>G XP_011532173.1:p.Met185Val
NM_001354798.1:c.626-1881A>G NP_001341727.1:n.626-1881A>G
NM_017875.4:c.733A>G MANE Select NP_060345.2:p.Met245Val
XM_006713214.2:c.721A>G XP_006713277.1:p.Met241Val
XM_011533869.2:c.715A>G XP_011532171.1:p.Met239Val
XM_024453611.1:c.679A>G XP_024309379.1:p.Met227Val
NM_001354798.2:c.626-1881A>G NP_001341727.1:n.626-1881A>G