Canonical Allele Identifier: CA352207531

Gene: SLC25A38

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39396484T>G , CM000665.2:g.39396484T>G	GRCh38
NC_000003.11:g.39437975T>G , CM000665.1:g.39437975T>G	GRCh37
NC_000003.10:g.39412979T>G	NCBI36
NG_016931.1:g.18161T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017875.4:c.879T>G MANE Select	NP_060345.2:p.Tyr293Ter
ENST00000650617.1:c.879T>G MANE Select	ENSP00000497532.1:p.Tyr293Ter
NM_001354798.1:c.712T>G	NP_001341727.1:p.Ter238Gly
NM_001354798.2:c.712T>G	NP_001341727.1:p.Ter238Gly
NM_017875.2:c.879T>G	NP_060345.2:p.Tyr293Ter
ENST00000273158.8:c.879T>G	ENSP00000273158.3:p.Tyr293Ter
ENST00000643672.1:c.828T>G	ENSP00000494532.1:p.Tyr276Ter
ENST00000645280.1:c.825T>G	ENSP00000496690.1:p.Tyr275Ter
ENST00000648579.1:c.*176T>G	ENSP00000497638.1:n.*176T>G
XM_006713214.1:c.867T>G	XP_006713277.1:p.Tyr289Ter
XM_006713214.2:c.867T>G	XP_006713277.1:p.Tyr289Ter
XM_011533869.1:c.861T>G	XP_011532171.1:p.Tyr287Ter
XM_011533869.2:c.861T>G	XP_011532171.1:p.Tyr287Ter
XM_011533870.1:c.828T>G	XP_011532172.1:p.Tyr276Ter
XM_011533871.1:c.699T>G	XP_011532173.1:p.Tyr233Ter
XM_024453611.1:c.825T>G	XP_024309379.1:p.Tyr275Ter