Canonical Allele Identifier: CA2643810

Gene: SLC25A36

Linked Data

• dbSNP Id: rs747823228
• ExAC: 3:140682042 G / A
• gnomAD v2: 3-140682042-G-A
• gnomAD v4: 3-140963200-G-A
• COSMIC: COSM5883739
• MyVariant Identifiers: chr3:g.140682042G>A (hg19) ; chr3:g.140963200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.140963200G>A , CM000665.2:g.140963200G>A	GRCh38
NC_000003.11:g.140682042G>A , CM000665.1:g.140682042G>A	GRCh37
NC_000003.10:g.142164732G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324194.12:c.358G>A MANE Select	ENSP00000320688.6:p.Val120Ile
ENST00000648615.1:c.358G>A	ENSP00000497436.1:p.Val120Ile
ENST00000324194.10:c.358G>A	ENSP00000320688.6:p.Val120Ile
ENST00000393015.8:n.560G>A
ENST00000446041.6:c.358G>A	ENSP00000401938.2:p.Val120Ile
ENST00000453248.6:c.280G>A	ENSP00000391521.2:p.Val94Ile
ENST00000502594.5:c.358G>A	ENSP00000423319.1:p.Val120Ile
ENST00000507429.5:c.358G>A	ENSP00000421470.1:p.Val120Ile
ENST00000512023.5:c.208G>A	ENSP00000424505.1:p.Val70Ile
ENST00000512506.5:c.208G>A	ENSP00000423711.1:p.Val70Ile
ENST00000513887.5:c.130G>A	ENSP00000422265.1:p.Val44Ile
ENST00000515813.1:n.467G>A
ENST00000631654.1:c.358G>A	ENSP00000487839.1:p.Val120Ile
NM_001104647.1:c.358G>A	NP_001098117.1:p.Val120Ile
NM_018155.2:c.358G>A	NP_060625.2:p.Val120Ile
XM_006713685.2:c.-749G>A	XP_006713748.1:n.-749G>A
XM_011512951.1:c.454G>A	XP_011511253.1:p.Val152Ile
XM_011512952.1:c.-97G>A	XP_011511254.1:n.-97G>A
XM_011512953.1:c.454G>A	XP_011511255.1:p.Val152Ile
XR_924150.1:n.647G>A
XR_924151.1:n.647G>A
XR_924152.1:n.647G>A
XR_924153.1:n.647G>A
XR_924154.1:n.647G>A
XR_924155.1:n.647G>A
XR_924156.1:n.647G>A
XR_924157.1:n.647G>A
NM_001104647.3:c.358G>A MANE Select	NP_001098117.1:p.Val120Ile
NM_018155.3:c.358G>A	NP_060625.2:p.Val120Ile