Canonical Allele Identifier: CA456632277

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 594108
• ClinVar RCV Id: RCV000729323
• dbSNP Id: rs1562774531
• MyVariant Identifiers: chr7:g.95751191C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121879C>A , CM000669.2:g.96121879C>A	GRCh38
NC_000007.13:g.95751191C>A , CM000669.1:g.95751191C>A	GRCh37
NC_000007.12:g.95589127C>A	NCBI36
NG_012247.1:g.205269G>T
NG_012247.2:g.205269G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1710G>T MANE Select	ENSP00000265631.6:p.Leu570=
ENST00000265631.9:c.1710G>T	ENSP00000265631.5:p.Leu570=
ENST00000416240.6:c.1713G>T	ENSP00000400101.2:p.Leu571=
ENST00000494085.1:n.120G>T
NM_001160210.1:c.1713G>T	NP_001153682.1:p.Leu571=
NM_014251.2:c.1710G>T	NP_055066.1:p.Leu570=
NR_027662.1:n.1785G>T
XM_006715831.2:c.1743G>T	XP_006715894.1:p.Leu581=
XM_011515728.1:c.858G>T	XP_011514030.1:p.Leu286=
XM_006715831.4:c.1743G>T	XP_006715894.1:p.Leu581=
XM_017011663.1:c.1701G>T	XP_016867152.1:p.Leu567=
XM_017011664.2:c.858G>T	XP_016867153.1:p.Leu286=
XM_017011665.1:c.858G>T	XP_016867154.1:p.Leu286=
XR_001744525.2:n.1956G>T
XR_002956405.1:n.2514G>T
NM_014251.3:c.1710G>T MANE Select	NP_055066.1:p.Leu570=
NR_027662.2:n.1736G>T
NM_001160210.2:c.1713G>T	NP_001153682.1:p.Leu571=