Canonical Allele Identifier: CA354858257

Gene: SLC25A36

Linked Data

• gnomAD v4: 3-140963225-C-T
• MyVariant Identifiers: chr3:g.140682067C>T (hg19) ; chr3:g.140963225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.140963225C>T , CM000665.2:g.140963225C>T	GRCh38
NC_000003.11:g.140682067C>T , CM000665.1:g.140682067C>T	GRCh37
NC_000003.10:g.142164757C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324194.12:c.383C>T MANE Select	ENSP00000320688.6:p.Ala128Val
ENST00000648615.1:c.383C>T	ENSP00000497436.1:p.Ala128Val
ENST00000324194.10:c.383C>T	ENSP00000320688.6:p.Ala128Val
ENST00000393015.8:n.585C>T
ENST00000446041.6:c.383C>T	ENSP00000401938.2:p.Ala128Val
ENST00000453248.6:c.305C>T	ENSP00000391521.2:p.Ala102Val
ENST00000502594.5:c.383C>T	ENSP00000423319.1:p.Ala128Val
ENST00000507429.5:c.383C>T	ENSP00000421470.1:p.Ala128Val
ENST00000512023.5:c.233C>T	ENSP00000424505.1:p.Ala78Val
ENST00000512506.5:c.233C>T	ENSP00000423711.1:p.Ala78Val
ENST00000513887.5:c.155C>T	ENSP00000422265.1:p.Ala52Val
ENST00000515813.1:n.492C>T
ENST00000631654.1:c.383C>T	ENSP00000487839.1:p.Ala128Val
NM_001104647.1:c.383C>T	NP_001098117.1:p.Ala128Val
NM_018155.2:c.383C>T	NP_060625.2:p.Ala128Val
XM_006713685.2:c.-724C>T	XP_006713748.1:n.-724C>T
XM_011512951.1:c.479C>T	XP_011511253.1:p.Ala160Val
XM_011512952.1:c.-72C>T	XP_011511254.1:n.-72C>T
XM_011512953.1:c.479C>T	XP_011511255.1:p.Ala160Val
XR_924150.1:n.672C>T
XR_924151.1:n.672C>T
XR_924152.1:n.672C>T
XR_924153.1:n.672C>T
XR_924154.1:n.672C>T
XR_924155.1:n.672C>T
XR_924156.1:n.672C>T
XR_924157.1:n.672C>T
NM_001104647.3:c.383C>T MANE Select	NP_001098117.1:p.Ala128Val
NM_018155.3:c.383C>T	NP_060625.2:p.Ala128Val