Canonical Allele Identifier: CA352205044

Gene: SLC25A38

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_017875.4:c.689T>C MANE Select	NP_060345.2:p.Leu230Pro
ENST00000650617.1:c.689T>C MANE Select	ENSP00000497532.1:p.Leu230Pro
NM_001354798.1:c.626-1925T>C	NP_001341727.1:n.626-1925T>C
NM_001354798.2:c.626-1925T>C	NP_001341727.1:n.626-1925T>C
NM_017875.2:c.689T>C	NP_060345.2:p.Leu230Pro
ENST00000273158.8:c.689T>C	ENSP00000273158.3:p.Leu230Pro
ENST00000642683.1:c.641T>C	ENSP00000495376.1:p.Leu214Pro
ENST00000643672.1:c.638T>C	ENSP00000494532.1:p.Leu213Pro
ENST00000645280.1:c.635T>C	ENSP00000496690.1:p.Leu212Pro
ENST00000648579.1:c.745T>C	ENSP00000497638.1:p.Trp249Arg
XM_006713214.1:c.677T>C	XP_006713277.1:p.Leu226Pro
XM_006713214.2:c.677T>C	XP_006713277.1:p.Leu226Pro
XM_011533869.1:c.671T>C	XP_011532171.1:p.Leu224Pro
XM_011533869.2:c.671T>C	XP_011532171.1:p.Leu224Pro
XM_011533870.1:c.638T>C	XP_011532172.1:p.Leu213Pro
XM_011533871.1:c.509T>C	XP_011532173.1:p.Leu170Pro
XM_024453611.1:c.635T>C	XP_024309379.1:p.Leu212Pro