Canonical Allele Identifier: CA4352820

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 290076
• ClinVar RCV Id: RCV000387748 ; RCV000533240 ; RCV001163199 ; RCV001277068 ; RCV001726091
• dbSNP Id: rs150082469
• ExAC: 7:95751221 G / A
• gnomAD v2: 7-95751221-G-A
• gnomAD v3: 7-96121909-G-A
• gnomAD v4: 7-96121909-G-A
• MyVariant Identifiers: chr7:g.95751221G>A (hg19) ; chr7:g.96121909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121909G>A , CM000669.2:g.96121909G>A	GRCh38
NC_000007.13:g.95751221G>A , CM000669.1:g.95751221G>A	GRCh37
NC_000007.12:g.95589157G>A	NCBI36
NG_012247.1:g.205239C>T
NG_012247.2:g.205239C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1680C>T MANE Select	ENSP00000265631.6:p.Ser560=
ENST00000265631.9:c.1680C>T	ENSP00000265631.5:p.Ser560=
ENST00000416240.6:c.1683C>T	ENSP00000400101.2:p.Ser561=
ENST00000494085.1:n.90C>T
NM_001160210.1:c.1683C>T	NP_001153682.1:p.Ser561=
NM_014251.2:c.1680C>T	NP_055066.1:p.Ser560=
NR_027662.1:n.1755C>T
XM_006715831.2:c.1713C>T	XP_006715894.1:p.Ser571=
XM_011515728.1:c.828C>T	XP_011514030.1:p.Ser276=
XM_006715831.4:c.1713C>T	XP_006715894.1:p.Ser571=
XM_017011663.1:c.1671C>T	XP_016867152.1:p.Ser557=
XM_017011664.2:c.828C>T	XP_016867153.1:p.Ser276=
XM_017011665.1:c.828C>T	XP_016867154.1:p.Ser276=
XR_001744525.2:n.1926C>T
XR_002956405.1:n.2484C>T
NM_014251.3:c.1680C>T MANE Select	NP_055066.1:p.Ser560=
NR_027662.2:n.1706C>T
NM_001160210.2:c.1683C>T	NP_001153682.1:p.Ser561=