Canonical Allele Identifier: CA354858001

Gene: SLC25A36

Linked Data

• gnomAD v4: 3-140963168-T-G
• MyVariant Identifiers: chr3:g.140682010T>G (hg19) ; chr3:g.140963168T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.140963168T>G , CM000665.2:g.140963168T>G	GRCh38
NC_000003.11:g.140682010T>G , CM000665.1:g.140682010T>G	GRCh37
NC_000003.10:g.142164700T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324194.12:c.326T>G MANE Select	ENSP00000320688.6:p.Leu109Trp
ENST00000648615.1:c.326T>G	ENSP00000497436.1:p.Leu109Trp
ENST00000324194.10:c.326T>G	ENSP00000320688.6:p.Leu109Trp
ENST00000393015.8:n.528T>G
ENST00000446041.6:c.326T>G	ENSP00000401938.2:p.Leu109Trp
ENST00000453248.6:c.248T>G	ENSP00000391521.2:p.Leu83Trp
ENST00000502594.5:c.326T>G	ENSP00000423319.1:p.Leu109Trp
ENST00000507429.5:c.326T>G	ENSP00000421470.1:p.Leu109Trp
ENST00000512023.5:c.176T>G	ENSP00000424505.1:p.Leu59Trp
ENST00000512506.5:c.176T>G	ENSP00000423711.1:p.Leu59Trp
ENST00000513887.5:c.98T>G	ENSP00000422265.1:p.Leu33Trp
ENST00000515813.1:n.435T>G
ENST00000631654.1:c.326T>G	ENSP00000487839.1:p.Leu109Trp
NM_001104647.1:c.326T>G	NP_001098117.1:p.Leu109Trp
NM_018155.2:c.326T>G	NP_060625.2:p.Leu109Trp
XM_006713685.2:c.-781T>G	XP_006713748.1:n.-781T>G
XM_011512951.1:c.422T>G	XP_011511253.1:p.Leu141Trp
XM_011512952.1:c.-129T>G	XP_011511254.1:n.-129T>G
XM_011512953.1:c.422T>G	XP_011511255.1:p.Leu141Trp
XR_924150.1:n.615T>G
XR_924151.1:n.615T>G
XR_924152.1:n.615T>G
XR_924153.1:n.615T>G
XR_924154.1:n.615T>G
XR_924155.1:n.615T>G
XR_924156.1:n.615T>G
XR_924157.1:n.615T>G
NM_001104647.3:c.326T>G MANE Select	NP_001098117.1:p.Leu109Trp
NM_018155.3:c.326T>G	NP_060625.2:p.Leu109Trp