Canonical Allele Identifier: CA2327538

Gene: SLC25A38

Linked Data

• dbSNP Id: rs770557347
• ExAC: 3:39436000 A / G
• gnomAD v2: 3-39436000-A-G
• gnomAD v4: 3-39394509-A-G
• MyVariant Identifiers: chr3:g.39436000A>G (hg19) ; chr3:g.39394509A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394509A>G , CM000665.2:g.39394509A>G	GRCh38
NC_000003.11:g.39436000A>G , CM000665.1:g.39436000A>G	GRCh37
NC_000003.10:g.39411004A>G	NCBI36
NG_016931.1:g.16186A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.677A>G	ENSP00000495376.1:p.Lys226Arg
ENST00000643672.1:c.674A>G	ENSP00000494532.1:p.Lys225Arg
ENST00000645280.1:c.671A>G	ENSP00000496690.1:p.Lys224Arg
ENST00000648579.1:c.*22A>G	ENSP00000497638.1:n.*22A>G
ENST00000650617.1:c.725A>G MANE Select	ENSP00000497532.1:p.Lys242Arg
ENST00000273158.8:c.725A>G	ENSP00000273158.3:p.Lys242Arg
NM_017875.2:c.725A>G	NP_060345.2:p.Lys242Arg
XM_006713214.1:c.713A>G	XP_006713277.1:p.Lys238Arg
XM_011533869.1:c.707A>G	XP_011532171.1:p.Lys236Arg
XM_011533870.1:c.674A>G	XP_011532172.1:p.Lys225Arg
XM_011533871.1:c.545A>G	XP_011532173.1:p.Lys182Arg
NM_001354798.1:c.626-1889A>G	NP_001341727.1:n.626-1889A>G
NM_017875.4:c.725A>G MANE Select	NP_060345.2:p.Lys242Arg
XM_006713214.2:c.713A>G	XP_006713277.1:p.Lys238Arg
XM_011533869.2:c.707A>G	XP_011532171.1:p.Lys236Arg
XM_024453611.1:c.671A>G	XP_024309379.1:p.Lys224Arg
NM_001354798.2:c.626-1889A>G	NP_001341727.1:n.626-1889A>G