Canonical Allele Identifier: CA352205041

Gene: SLC25A38

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394473T>A , CM000665.2:g.39394473T>A	GRCh38
NC_000003.11:g.39435964T>A , CM000665.1:g.39435964T>A	GRCh37
NC_000003.10:g.39410968T>A	NCBI36
NG_016931.1:g.16150T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017875.4:c.689T>A MANE Select	NP_060345.2:p.Leu230Gln
ENST00000650617.1:c.689T>A MANE Select	ENSP00000497532.1:p.Leu230Gln
NM_001354798.1:c.626-1925T>A	NP_001341727.1:n.626-1925T>A
NM_001354798.2:c.626-1925T>A	NP_001341727.1:n.626-1925T>A
NM_017875.2:c.689T>A	NP_060345.2:p.Leu230Gln
ENST00000273158.8:c.689T>A	ENSP00000273158.3:p.Leu230Gln
ENST00000642683.1:c.641T>A	ENSP00000495376.1:p.Leu214Gln
ENST00000643672.1:c.638T>A	ENSP00000494532.1:p.Leu213Gln
ENST00000645280.1:c.635T>A	ENSP00000496690.1:p.Leu212Gln
ENST00000648579.1:c.745T>A	ENSP00000497638.1:p.Trp249Arg
XM_006713214.1:c.677T>A	XP_006713277.1:p.Leu226Gln
XM_006713214.2:c.677T>A	XP_006713277.1:p.Leu226Gln
XM_011533869.1:c.671T>A	XP_011532171.1:p.Leu224Gln
XM_011533869.2:c.671T>A	XP_011532171.1:p.Leu224Gln
XM_011533870.1:c.638T>A	XP_011532172.1:p.Leu213Gln
XM_011533871.1:c.509T>A	XP_011532173.1:p.Leu170Gln
XM_024453611.1:c.635T>A	XP_024309379.1:p.Leu212Gln