Canonical Allele Identifier: CA352205547

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39436031T>A (hg19) ; chr3:g.39394540T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394540T>A , CM000665.2:g.39394540T>A	GRCh38
NC_000003.11:g.39436031T>A , CM000665.1:g.39436031T>A	GRCh37
NC_000003.10:g.39411035T>A	NCBI36
NG_016931.1:g.16217T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.708T>A	ENSP00000495376.1:p.Phe236Leu
ENST00000643672.1:c.705T>A	ENSP00000494532.1:p.Phe235Leu
ENST00000645280.1:c.702T>A	ENSP00000496690.1:p.Phe234Leu
ENST00000648579.1:c.*53T>A	ENSP00000497638.1:n.*53T>A
ENST00000650617.1:c.756T>A MANE Select	ENSP00000497532.1:p.Phe252Leu
ENST00000273158.8:c.756T>A	ENSP00000273158.3:p.Phe252Leu
NM_017875.2:c.756T>A	NP_060345.2:p.Phe252Leu
XM_006713214.1:c.744T>A	XP_006713277.1:p.Phe248Leu
XM_011533869.1:c.738T>A	XP_011532171.1:p.Phe246Leu
XM_011533870.1:c.705T>A	XP_011532172.1:p.Phe235Leu
XM_011533871.1:c.576T>A	XP_011532173.1:p.Phe192Leu
NM_001354798.1:c.626-1858T>A	NP_001341727.1:n.626-1858T>A
NM_017875.4:c.756T>A MANE Select	NP_060345.2:p.Phe252Leu
XM_006713214.2:c.744T>A	XP_006713277.1:p.Phe248Leu
XM_011533869.2:c.738T>A	XP_011532171.1:p.Phe246Leu
XM_024453611.1:c.702T>A	XP_024309379.1:p.Phe234Leu
NM_001354798.2:c.626-1858T>A	NP_001341727.1:n.626-1858T>A