Canonical Allele Identifier: CA352205774

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39436056C>A (hg19) ; chr3:g.39394565C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394565C>A , CM000665.2:g.39394565C>A	GRCh38
NC_000003.11:g.39436056C>A , CM000665.1:g.39436056C>A	GRCh37
NC_000003.10:g.39411060C>A	NCBI36
NG_016931.1:g.16242C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.733C>A	ENSP00000495376.1:p.Leu245Ile
ENST00000643672.1:c.730C>A	ENSP00000494532.1:p.Leu244Ile
ENST00000645280.1:c.727C>A	ENSP00000496690.1:p.Leu243Ile
ENST00000648579.1:c.*78C>A	ENSP00000497638.1:n.*78C>A
ENST00000650617.1:c.781C>A MANE Select	ENSP00000497532.1:p.Leu261Ile
ENST00000273158.8:c.781C>A	ENSP00000273158.3:p.Leu261Ile
NM_017875.2:c.781C>A	NP_060345.2:p.Leu261Ile
XM_006713214.1:c.769C>A	XP_006713277.1:p.Leu257Ile
XM_011533869.1:c.763C>A	XP_011532171.1:p.Leu255Ile
XM_011533870.1:c.730C>A	XP_011532172.1:p.Leu244Ile
XM_011533871.1:c.601C>A	XP_011532173.1:p.Leu201Ile
NM_001354798.1:c.626-1833C>A	NP_001341727.1:n.626-1833C>A
NM_017875.4:c.781C>A MANE Select	NP_060345.2:p.Leu261Ile
XM_006713214.2:c.769C>A	XP_006713277.1:p.Leu257Ile
XM_011533869.2:c.763C>A	XP_011532171.1:p.Leu255Ile
XM_024453611.1:c.727C>A	XP_024309379.1:p.Leu243Ile
NM_001354798.2:c.626-1833C>A	NP_001341727.1:n.626-1833C>A