Canonical Allele Identifier: CA352205254

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39435992T>A (hg19) ; chr3:g.39394501T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394501T>A , CM000665.2:g.39394501T>A	GRCh38
NC_000003.11:g.39435992T>A , CM000665.1:g.39435992T>A	GRCh37
NC_000003.10:g.39410996T>A	NCBI36
NG_016931.1:g.16178T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.669T>A	ENSP00000495376.1:p.Asp223Glu
ENST00000643672.1:c.666T>A	ENSP00000494532.1:p.Asp222Glu
ENST00000645280.1:c.663T>A	ENSP00000496690.1:p.Asp221Glu
ENST00000648579.1:c.*14T>A	ENSP00000497638.1:n.*14T>A
ENST00000650617.1:c.717T>A MANE Select	ENSP00000497532.1:p.Asp239Glu
ENST00000273158.8:c.717T>A	ENSP00000273158.3:p.Asp239Glu
NM_017875.2:c.717T>A	NP_060345.2:p.Asp239Glu
XM_006713214.1:c.705T>A	XP_006713277.1:p.Asp235Glu
XM_011533869.1:c.699T>A	XP_011532171.1:p.Asp233Glu
XM_011533870.1:c.666T>A	XP_011532172.1:p.Asp222Glu
XM_011533871.1:c.537T>A	XP_011532173.1:p.Asp179Glu
NM_001354798.1:c.626-1897T>A	NP_001341727.1:n.626-1897T>A
NM_017875.4:c.717T>A MANE Select	NP_060345.2:p.Asp239Glu
XM_006713214.2:c.705T>A	XP_006713277.1:p.Asp235Glu
XM_011533869.2:c.699T>A	XP_011532171.1:p.Asp233Glu
XM_024453611.1:c.663T>A	XP_024309379.1:p.Asp221Glu
NM_001354798.2:c.626-1897T>A	NP_001341727.1:n.626-1897T>A