Canonical Allele Identifier: CA4352823

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361013
• ClinVar RCV Id: RCV001277069 ; RCV001712762
• dbSNP Id: rs79886797
• ExAC: 7:95751230 G / A
• gnomAD v2: 7-95751230-G-A
• gnomAD v3: 7-96121918-G-A
• gnomAD v4: 7-96121918-G-A
• MyVariant Identifiers: chr7:g.95751230G>A (hg19) ; chr7:g.96121918G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121918G>A , CM000669.2:g.96121918G>A	GRCh38
NC_000007.13:g.95751230G>A , CM000669.1:g.95751230G>A	GRCh37
NC_000007.12:g.95589166G>A	NCBI36
NG_012247.1:g.205230C>T
NG_012247.2:g.205230C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1671C>T MANE Select	ENSP00000265631.6:p.Thr557=
ENST00000265631.9:c.1671C>T	ENSP00000265631.5:p.Thr557=
ENST00000416240.6:c.1674C>T	ENSP00000400101.2:p.Thr558=
ENST00000494085.1:n.81C>T
NM_001160210.1:c.1674C>T	NP_001153682.1:p.Thr558=
NM_014251.2:c.1671C>T	NP_055066.1:p.Thr557=
NR_027662.1:n.1746C>T
XM_006715831.2:c.1704C>T	XP_006715894.1:p.Thr568=
XM_011515728.1:c.819C>T	XP_011514030.1:p.Thr273=
XM_006715831.4:c.1704C>T	XP_006715894.1:p.Thr568=
XM_017011663.1:c.1662C>T	XP_016867152.1:p.Thr554=
XM_017011664.2:c.819C>T	XP_016867153.1:p.Thr273=
XM_017011665.1:c.819C>T	XP_016867154.1:p.Thr273=
XR_001744525.2:n.1917C>T
XR_002956405.1:n.2475C>T
NM_014251.3:c.1671C>T MANE Select	NP_055066.1:p.Thr557=
NR_027662.2:n.1697C>T
NM_001160210.2:c.1674C>T	NP_001153682.1:p.Thr558=