Canonical Allele Identifier: CA352205095

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39435972C>G (hg19) ; chr3:g.39394481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394481C>G , CM000665.2:g.39394481C>G	GRCh38
NC_000003.11:g.39435972C>G , CM000665.1:g.39435972C>G	GRCh37
NC_000003.10:g.39410976C>G	NCBI36
NG_016931.1:g.16158C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642683.1:c.649C>G	ENSP00000495376.1:p.Leu217Val
ENST00000643672.1:c.646C>G	ENSP00000494532.1:p.Leu216Val
ENST00000645280.1:c.643C>G	ENSP00000496690.1:p.Leu215Val
ENST00000648579.1:c.753C>G	ENSP00000497638.1:p.His251Gln
ENST00000650617.1:c.697C>G MANE Select	ENSP00000497532.1:p.Leu233Val
ENST00000273158.8:c.697C>G	ENSP00000273158.3:p.Leu233Val
NM_017875.2:c.697C>G	NP_060345.2:p.Leu233Val
XM_006713214.1:c.685C>G	XP_006713277.1:p.Leu229Val
XM_011533869.1:c.679C>G	XP_011532171.1:p.Leu227Val
XM_011533870.1:c.646C>G	XP_011532172.1:p.Leu216Val
XM_011533871.1:c.517C>G	XP_011532173.1:p.Leu173Val
NM_001354798.1:c.626-1917C>G	NP_001341727.1:n.626-1917C>G
NM_017875.4:c.697C>G MANE Select	NP_060345.2:p.Leu233Val
XM_006713214.2:c.685C>G	XP_006713277.1:p.Leu229Val
XM_011533869.2:c.679C>G	XP_011532171.1:p.Leu227Val
XM_024453611.1:c.643C>G	XP_024309379.1:p.Leu215Val
NM_001354798.2:c.626-1917C>G	NP_001341727.1:n.626-1917C>G