Canonical Allele Identifier: CA456632258

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 1609420
• ClinVar RCV Id: RCV002150286 ; RCV003895848
• dbSNP Id: rs1791522939
• MyVariant Identifiers: chr7:g.95751161C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121849C>T , CM000669.2:g.96121849C>T	GRCh38
NC_000007.13:g.95751161C>T , CM000669.1:g.95751161C>T	GRCh37
NC_000007.12:g.95589097C>T	NCBI36
NG_012247.1:g.205299G>A
NG_012247.2:g.205299G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1740G>A MANE Select	ENSP00000265631.6:p.Lys580=
ENST00000265631.9:c.1740G>A	ENSP00000265631.5:p.Lys580=
ENST00000416240.6:c.1743G>A	ENSP00000400101.2:p.Lys581=
ENST00000494085.1:n.150G>A
NM_001160210.1:c.1743G>A	NP_001153682.1:p.Lys581=
NM_014251.2:c.1740G>A	NP_055066.1:p.Lys580=
NR_027662.1:n.1815G>A
XM_006715831.2:c.1773G>A	XP_006715894.1:p.Lys591=
XM_011515728.1:c.888G>A	XP_011514030.1:p.Lys296=
XM_006715831.4:c.1773G>A	XP_006715894.1:p.Lys591=
XM_017011663.1:c.1731G>A	XP_016867152.1:p.Lys577=
XM_017011664.2:c.888G>A	XP_016867153.1:p.Lys296=
XM_017011665.1:c.888G>A	XP_016867154.1:p.Lys296=
XR_001744525.2:n.1986G>A
XR_002956405.1:n.2544G>A
NM_014251.3:c.1740G>A MANE Select	NP_055066.1:p.Lys580=
NR_027662.2:n.1766G>A
NM_001160210.2:c.1743G>A	NP_001153682.1:p.Lys581=