Canonical Allele Identifier: CA352205419

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39436015T>A (hg19) ; chr3:g.39394524T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394524T>A , CM000665.2:g.39394524T>A	GRCh38
NC_000003.11:g.39436015T>A , CM000665.1:g.39436015T>A	GRCh37
NC_000003.10:g.39411019T>A	NCBI36
NG_016931.1:g.16201T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.692T>A	ENSP00000495376.1:p.Leu231His
ENST00000643672.1:c.689T>A	ENSP00000494532.1:p.Leu230His
ENST00000645280.1:c.686T>A	ENSP00000496690.1:p.Leu229His
ENST00000648579.1:c.*37T>A	ENSP00000497638.1:n.*37T>A
ENST00000650617.1:c.740T>A MANE Select	ENSP00000497532.1:p.Leu247His
ENST00000273158.8:c.740T>A	ENSP00000273158.3:p.Leu247His
NM_017875.2:c.740T>A	NP_060345.2:p.Leu247His
XM_006713214.1:c.728T>A	XP_006713277.1:p.Leu243His
XM_011533869.1:c.722T>A	XP_011532171.1:p.Leu241His
XM_011533870.1:c.689T>A	XP_011532172.1:p.Leu230His
XM_011533871.1:c.560T>A	XP_011532173.1:p.Leu187His
NM_001354798.1:c.626-1874T>A	NP_001341727.1:n.626-1874T>A
NM_017875.4:c.740T>A MANE Select	NP_060345.2:p.Leu247His
XM_006713214.2:c.728T>A	XP_006713277.1:p.Leu243His
XM_011533869.2:c.722T>A	XP_011532171.1:p.Leu241His
XM_024453611.1:c.686T>A	XP_024309379.1:p.Leu229His
NM_001354798.2:c.626-1874T>A	NP_001341727.1:n.626-1874T>A