Canonical Allele Identifier: CA2839655415

Gene: SLC25A36

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.140963275A>C , CM000665.2:g.140963275A>C	GRCh38
NC_000003.11:g.140682117A>C , CM000665.1:g.140682117A>C	GRCh37
NC_000003.10:g.142164807A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324194.12:c.385+48A>C MANE Select	ENSP00000320688.6:n.385+48A>C
ENST00000648615.1:c.385+48A>C	ENSP00000497436.1:n.385+48A>C
ENST00000324194.10:c.385+48A>C	ENSP00000320688.6:n.385+48A>C
ENST00000393015.8:n.587+48A>C
ENST00000446041.6:c.385+48A>C	ENSP00000401938.2:n.385+48A>C
ENST00000453248.6:c.307+48A>C	ENSP00000391521.2:n.307+48A>C
ENST00000502594.5:c.385+48A>C	ENSP00000423319.1:n.385+48A>C
ENST00000507429.5:c.*34A>C	ENSP00000421470.1:n.*34A>C
ENST00000512023.5:c.235+48A>C	ENSP00000424505.1:n.235+48A>C
ENST00000512506.5:c.235+48A>C	ENSP00000423711.1:n.235+48A>C
ENST00000513887.5:c.157+48A>C	ENSP00000422265.1:n.157+48A>C
ENST00000515813.1:n.542A>C
ENST00000631654.1:c.385+48A>C	ENSP00000487839.1:n.385+48A>C
NM_001104647.1:c.385+48A>C	NP_001098117.1:n.385+48A>C
NM_018155.2:c.385+48A>C	NP_060625.2:n.385+48A>C
XM_006713685.2:c.-722+48A>C	XP_006713748.1:n.-722+48A>C
XM_011512951.1:c.481+48A>C	XP_011511253.1:n.481+48A>C
XM_011512952.1:c.-70+48A>C	XP_011511254.1:n.-70+48A>C
XM_011512953.1:c.481+48A>C	XP_011511255.1:n.481+48A>C
XR_924150.1:n.674+48A>C
XR_924151.1:n.674+48A>C
XR_924152.1:n.674+48A>C
XR_924153.1:n.674+48A>C
XR_924154.1:n.674+48A>C
XR_924155.1:n.674+48A>C
XR_924156.1:n.674+48A>C
XR_924157.1:n.674+48A>C
NM_001104647.3:c.385+48A>C MANE Select	NP_001098117.1:n.385+48A>C
NM_018155.3:c.385+48A>C	NP_060625.2:n.385+48A>C