Canonical Allele Identifier: CA368257804

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 2466873
• ClinVar RCV Id: RCV003196923
• dbSNP Id: rs1314171694
• gnomAD v2: 7-95751016-G-T
• gnomAD v4: 7-96121704-G-T
• MyVariant Identifiers: chr7:g.95751016G>T (hg19) ; chr7:g.96121704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121704G>T , CM000669.2:g.96121704G>T	GRCh38
NC_000007.13:g.95751016G>T , CM000669.1:g.95751016G>T	GRCh37
NC_000007.12:g.95588952G>T	NCBI36
NG_012247.1:g.205444C>A
NG_012247.2:g.205444C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1792C>A MANE Select	ENSP00000265631.6:p.Leu598Met
ENST00000265631.9:c.1792C>A	ENSP00000265631.5:p.Leu598Met
ENST00000416240.6:c.1795C>A	ENSP00000400101.2:p.Leu599Met
ENST00000494085.1:n.295C>A
NM_001160210.1:c.1795C>A	NP_001153682.1:p.Leu599Met
NM_014251.2:c.1792C>A	NP_055066.1:p.Leu598Met
NR_027662.1:n.1867C>A
XM_006715831.2:c.1825C>A	XP_006715894.1:p.Leu609Met
XM_011515728.1:c.940C>A	XP_011514030.1:p.Leu314Met
XM_006715831.4:c.1825C>A	XP_006715894.1:p.Leu609Met
XM_017011663.1:c.1783C>A	XP_016867152.1:p.Leu595Met
XM_017011664.2:c.940C>A	XP_016867153.1:p.Leu314Met
XM_017011665.1:c.940C>A	XP_016867154.1:p.Leu314Met
XR_001744525.2:n.2038C>A
XR_002956405.1:n.2596C>A
NM_014251.3:c.1792C>A MANE Select	NP_055066.1:p.Leu598Met
NR_027662.2:n.1818C>A
NM_001160210.2:c.1795C>A	NP_001153682.1:p.Leu599Met