Canonical Allele Identifier: CA456509954

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 1111936
• ClinVar RCV Id: RCV001438728
• dbSNP Id: rs2116380705
• gnomAD v4: 7-96121311-G-A
• COSMIC: COSM5469244
• MyVariant Identifiers: chr7:g.95750623G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121311G>A , CM000669.2:g.96121311G>A	GRCh38
NC_000007.13:g.95750623G>A , CM000669.1:g.95750623G>A	GRCh37
NC_000007.12:g.95588559G>A	NCBI36
NG_012247.1:g.205837C>T
NG_012247.2:g.205837C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1908C>T MANE Select	ENSP00000265631.6:p.His636=
ENST00000265631.9:c.1908C>T	ENSP00000265631.5:p.His636=
ENST00000416240.6:c.1911C>T	ENSP00000400101.2:p.His637=
ENST00000494085.1:n.411C>T
NM_001160210.1:c.1911C>T	NP_001153682.1:p.His637=
NM_014251.2:c.1908C>T	NP_055066.1:p.His636=
NR_027662.1:n.1983C>T
XM_006715831.2:c.1941C>T	XP_006715894.1:p.His647=
XM_011515728.1:c.1056C>T	XP_011514030.1:p.His352=
XM_006715831.4:c.1941C>T	XP_006715894.1:p.His647=
XM_017011663.1:c.1899C>T	XP_016867152.1:p.His633=
XM_017011664.2:c.1056C>T	XP_016867153.1:p.His352=
XM_017011665.1:c.1056C>T	XP_016867154.1:p.His352=
XR_001744525.2:n.2154C>T
XR_002956405.1:n.2712C>T
NM_014251.3:c.1908C>T MANE Select	NP_055066.1:p.His636=
NR_027662.2:n.1934C>T
NM_001160210.2:c.1911C>T	NP_001153682.1:p.His637=