Canonical Allele Identifier: CA354858099

Gene: SLC25A36

Linked Data

• dbSNP Id: rs1220349775
• gnomAD v2: 3-140682030-G-C
• gnomAD v4: 3-140963188-G-C
• MyVariant Identifiers: chr3:g.140682030G>C (hg19) ; chr3:g.140963188G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.140963188G>C , CM000665.2:g.140963188G>C	GRCh38
NC_000003.11:g.140682030G>C , CM000665.1:g.140682030G>C	GRCh37
NC_000003.10:g.142164720G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324194.12:c.346G>C MANE Select	ENSP00000320688.6:p.Asp116His
ENST00000648615.1:c.346G>C	ENSP00000497436.1:p.Asp116His
ENST00000324194.10:c.346G>C	ENSP00000320688.6:p.Asp116His
ENST00000393015.8:n.548G>C
ENST00000446041.6:c.346G>C	ENSP00000401938.2:p.Asp116His
ENST00000453248.6:c.268G>C	ENSP00000391521.2:p.Asp90His
ENST00000502594.5:c.346G>C	ENSP00000423319.1:p.Asp116His
ENST00000507429.5:c.346G>C	ENSP00000421470.1:p.Asp116His
ENST00000512023.5:c.196G>C	ENSP00000424505.1:p.Asp66His
ENST00000512506.5:c.196G>C	ENSP00000423711.1:p.Asp66His
ENST00000513887.5:c.118G>C	ENSP00000422265.1:p.Asp40His
ENST00000515813.1:n.455G>C
ENST00000631654.1:c.346G>C	ENSP00000487839.1:p.Asp116His
NM_001104647.1:c.346G>C	NP_001098117.1:p.Asp116His
NM_018155.2:c.346G>C	NP_060625.2:p.Asp116His
XM_006713685.2:c.-761G>C	XP_006713748.1:n.-761G>C
XM_011512951.1:c.442G>C	XP_011511253.1:p.Asp148His
XM_011512952.1:c.-109G>C	XP_011511254.1:n.-109G>C
XM_011512953.1:c.442G>C	XP_011511255.1:p.Asp148His
XR_924150.1:n.635G>C
XR_924151.1:n.635G>C
XR_924152.1:n.635G>C
XR_924153.1:n.635G>C
XR_924154.1:n.635G>C
XR_924155.1:n.635G>C
XR_924156.1:n.635G>C
XR_924157.1:n.635G>C
NM_001104647.3:c.346G>C MANE Select	NP_001098117.1:p.Asp116His
NM_018155.3:c.346G>C	NP_060625.2:p.Asp116His