Canonical Allele Identifier: CA4352755

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 1636869
• ClinVar RCV Id: RCV002128689
• dbSNP Id: rs751199034
• ExAC: 7:95750686 T / C
• gnomAD v2: 7-95750686-T-C
• gnomAD v4: 7-96121374-T-C
• MyVariant Identifiers: chr7:g.95750686T>C (hg19) ; chr7:g.96121374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121374T>C , CM000669.2:g.96121374T>C	GRCh38
NC_000007.13:g.95750686T>C , CM000669.1:g.95750686T>C	GRCh37
NC_000007.12:g.95588622T>C	NCBI36
NG_012247.1:g.205774A>G
NG_012247.2:g.205774A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1845A>G MANE Select	ENSP00000265631.6:p.Lys615=
ENST00000265631.9:c.1845A>G	ENSP00000265631.5:p.Lys615=
ENST00000416240.6:c.1848A>G	ENSP00000400101.2:p.Lys616=
ENST00000494085.1:n.348A>G
NM_001160210.1:c.1848A>G	NP_001153682.1:p.Lys616=
NM_014251.2:c.1845A>G	NP_055066.1:p.Lys615=
NR_027662.1:n.1920A>G
XM_006715831.2:c.1878A>G	XP_006715894.1:p.Lys626=
XM_011515728.1:c.993A>G	XP_011514030.1:p.Lys331=
XM_006715831.4:c.1878A>G	XP_006715894.1:p.Lys626=
XM_017011663.1:c.1836A>G	XP_016867152.1:p.Lys612=
XM_017011664.2:c.993A>G	XP_016867153.1:p.Lys331=
XM_017011665.1:c.993A>G	XP_016867154.1:p.Lys331=
XR_001744525.2:n.2091A>G
XR_002956405.1:n.2649A>G
NM_014251.3:c.1845A>G MANE Select	NP_055066.1:p.Lys615=
NR_027662.2:n.1871A>G
NM_001160210.2:c.1848A>G	NP_001153682.1:p.Lys616=