Canonical Allele Identifier: CA352205312

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39435999A>G (hg19) ; chr3:g.39394508A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394508A>G , CM000665.2:g.39394508A>G	GRCh38
NC_000003.11:g.39435999A>G , CM000665.1:g.39435999A>G	GRCh37
NC_000003.10:g.39411003A>G	NCBI36
NG_016931.1:g.16185A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.676A>G	ENSP00000495376.1:p.Lys226Glu
ENST00000643672.1:c.673A>G	ENSP00000494532.1:p.Lys225Glu
ENST00000645280.1:c.670A>G	ENSP00000496690.1:p.Lys224Glu
ENST00000648579.1:c.*21A>G	ENSP00000497638.1:n.*21A>G
ENST00000650617.1:c.724A>G MANE Select	ENSP00000497532.1:p.Lys242Glu
ENST00000273158.8:c.724A>G	ENSP00000273158.3:p.Lys242Glu
NM_017875.2:c.724A>G	NP_060345.2:p.Lys242Glu
XM_006713214.1:c.712A>G	XP_006713277.1:p.Lys238Glu
XM_011533869.1:c.706A>G	XP_011532171.1:p.Lys236Glu
XM_011533870.1:c.673A>G	XP_011532172.1:p.Lys225Glu
XM_011533871.1:c.544A>G	XP_011532173.1:p.Lys182Glu
NM_001354798.1:c.626-1890A>G	NP_001341727.1:n.626-1890A>G
NM_017875.4:c.724A>G MANE Select	NP_060345.2:p.Lys242Glu
XM_006713214.2:c.712A>G	XP_006713277.1:p.Lys238Glu
XM_011533869.2:c.706A>G	XP_011532171.1:p.Lys236Glu
XM_024453611.1:c.670A>G	XP_024309379.1:p.Lys224Glu
NM_001354798.2:c.626-1890A>G	NP_001341727.1:n.626-1890A>G