Canonical Allele Identifier: CA481453122

Gene: SLC25A3

Linked Data

• ClinVar Variation Id: 755680
• ClinVar RCV Id: RCV000933125
• dbSNP Id: rs747423687
• gnomAD v2: 12-98989212-G-A
• gnomAD v4: 12-98595434-G-A
• MyVariant Identifiers: chr12:g.98989212G>A (hg19) ; chr12:g.98595434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.98595434G>A , CM000674.2:g.98595434G>A	GRCh38
NC_000012.11:g.98989212G>A , CM000674.1:g.98989212G>A	GRCh37
NC_000012.10:g.97513343G>A	NCBI36
NG_011702.1:g.6810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228318.8:c.159G>A MANE Plus Clinical	ENSP00000228318.3:p.Glu53=
ENST00000552981.6:c.158-293G>A MANE Select	ENSP00000448708.2:n.158-293G>A
ENST00000188376.9:c.158-293G>A	ENSP00000188376.5:n.158-293G>A
ENST00000228318.7:c.159G>A	ENSP00000228318.3:p.Glu53=
ENST00000401722.7:c.158-293G>A	ENSP00000383898.3:n.158-293G>A
ENST00000546766.5:n.1546G>A
ENST00000547534.5:c.158-293G>A	ENSP00000449793.1:n.158-293G>A
ENST00000548046.5:c.159G>A	ENSP00000447339.1:p.Glu53=
ENST00000548847.1:c.158-293G>A	ENSP00000449166.1:n.158-293G>A
ENST00000549338.5:c.158-293G>A	ENSP00000447740.1:n.158-293G>A
ENST00000550695.1:c.159G>A	ENSP00000449479.1:p.Glu53=
ENST00000551123.5:c.159G>A	ENSP00000449009.1:p.Glu53=
ENST00000551917.5:c.159G>A	ENSP00000447310.1:p.Glu53=
ENST00000552981.5:c.158-293G>A	ENSP00000448708.1:n.158-293G>A
NM_002635.3:c.158-293G>A	NP_002626.1:n.158-293G>A
NM_005888.3:c.159G>A	NP_005879.1:p.Glu53=
NM_213611.2:c.158-293G>A	NP_998776.1:n.158-293G>A
NM_002635.4:c.158-293G>A MANE Select	NP_002626.1:n.158-293G>A
NM_213611.3:c.158-293G>A	NP_998776.1:n.158-293G>A
NM_005888.4:c.159G>A MANE Plus Clinical	NP_005879.1:p.Glu53=