Canonical Allele Identifier: CA352201196

Gene: SLC25A38

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39391564C>T , CM000665.2:g.39391564C>T	GRCh38
NC_000003.11:g.39433055C>T , CM000665.1:g.39433055C>T	GRCh37
NC_000003.10:g.39408059C>T	NCBI36
NG_016931.1:g.13241C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017875.4:c.400C>T MANE Select	NP_060345.2:p.Arg134Cys
ENST00000650617.1:c.400C>T MANE Select	ENSP00000497532.1:p.Arg134Cys
NM_001354798.1:c.400C>T	NP_001341727.1:p.Arg134Cys
NM_001354798.2:c.400C>T	NP_001341727.1:p.Arg134Cys
NM_017875.2:c.400C>T	NP_060345.2:p.Arg134Cys
ENST00000273158.8:c.400C>T	ENSP00000273158.3:p.Arg134Cys
ENST00000431510.1:c.388C>T	ENSP00000394244.1:p.Arg130Cys
ENST00000642683.1:c.352C>T	ENSP00000495376.1:p.Arg118Cys
ENST00000643672.1:c.349C>T	ENSP00000494532.1:p.Arg117Cys
ENST00000645280.1:c.346C>T	ENSP00000496690.1:p.Arg116Cys
ENST00000645630.1:c.277-289C>T	ENSP00000493714.1:n.277-289C>T
ENST00000648579.1:c.400C>T	ENSP00000497638.1:p.Arg134Cys
XM_006713214.1:c.388C>T	XP_006713277.1:p.Arg130Cys
XM_006713214.2:c.388C>T	XP_006713277.1:p.Arg130Cys
XM_011533869.1:c.382C>T	XP_011532171.1:p.Arg128Cys
XM_011533869.2:c.382C>T	XP_011532171.1:p.Arg128Cys
XM_011533870.1:c.349C>T	XP_011532172.1:p.Arg117Cys
XM_011533871.1:c.277-289C>T	XP_011532173.1:n.277-289C>T
XM_024453611.1:c.346C>T	XP_024309379.1:p.Arg116Cys