Canonical Allele Identifier: CA352205694

Gene: SLC25A38

Linked Data

• gnomAD v4: 3-39394556-G-A
• MyVariant Identifiers: chr3:g.39436047G>A (hg19) ; chr3:g.39394556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394556G>A , CM000665.2:g.39394556G>A	GRCh38
NC_000003.11:g.39436047G>A , CM000665.1:g.39436047G>A	GRCh37
NC_000003.10:g.39411051G>A	NCBI36
NG_016931.1:g.16233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.724G>A	ENSP00000495376.1:p.Ala242Thr
ENST00000643672.1:c.721G>A	ENSP00000494532.1:p.Ala241Thr
ENST00000645280.1:c.718G>A	ENSP00000496690.1:p.Ala240Thr
ENST00000648579.1:c.*69G>A	ENSP00000497638.1:n.*69G>A
ENST00000650617.1:c.772G>A MANE Select	ENSP00000497532.1:p.Ala258Thr
ENST00000273158.8:c.772G>A	ENSP00000273158.3:p.Ala258Thr
NM_017875.2:c.772G>A	NP_060345.2:p.Ala258Thr
XM_006713214.1:c.760G>A	XP_006713277.1:p.Ala254Thr
XM_011533869.1:c.754G>A	XP_011532171.1:p.Ala252Thr
XM_011533870.1:c.721G>A	XP_011532172.1:p.Ala241Thr
XM_011533871.1:c.592G>A	XP_011532173.1:p.Ala198Thr
NM_001354798.1:c.626-1842G>A	NP_001341727.1:n.626-1842G>A
NM_017875.4:c.772G>A MANE Select	NP_060345.2:p.Ala258Thr
XM_006713214.2:c.760G>A	XP_006713277.1:p.Ala254Thr
XM_011533869.2:c.754G>A	XP_011532171.1:p.Ala252Thr
XM_024453611.1:c.718G>A	XP_024309379.1:p.Ala240Thr
NM_001354798.2:c.626-1842G>A	NP_001341727.1:n.626-1842G>A