Canonical Allele Identifier: CA456509957

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 1119435
• ClinVar RCV Id: RCV001448897
• dbSNP Id: rs1791493740
• MyVariant Identifiers: chr7:g.95750626A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121314A>G , CM000669.2:g.96121314A>G	GRCh38
NC_000007.13:g.95750626A>G , CM000669.1:g.95750626A>G	GRCh37
NC_000007.12:g.95588562A>G	NCBI36
NG_012247.1:g.205834T>C
NG_012247.2:g.205834T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1905T>C MANE Select	ENSP00000265631.6:p.Asp635=
ENST00000265631.9:c.1905T>C	ENSP00000265631.5:p.Asp635=
ENST00000416240.6:c.1908T>C	ENSP00000400101.2:p.Asp636=
ENST00000494085.1:n.408T>C
NM_001160210.1:c.1908T>C	NP_001153682.1:p.Asp636=
NM_014251.2:c.1905T>C	NP_055066.1:p.Asp635=
NR_027662.1:n.1980T>C
XM_006715831.2:c.1938T>C	XP_006715894.1:p.Asp646=
XM_011515728.1:c.1053T>C	XP_011514030.1:p.Asp351=
XM_006715831.4:c.1938T>C	XP_006715894.1:p.Asp646=
XM_017011663.1:c.1896T>C	XP_016867152.1:p.Asp632=
XM_017011664.2:c.1053T>C	XP_016867153.1:p.Asp351=
XM_017011665.1:c.1053T>C	XP_016867154.1:p.Asp351=
XR_001744525.2:n.2151T>C
XR_002956405.1:n.2709T>C
NM_014251.3:c.1905T>C MANE Select	NP_055066.1:p.Asp635=
NR_027662.2:n.1931T>C
NM_001160210.2:c.1908T>C	NP_001153682.1:p.Asp636=