Canonical Allele Identifier: CA253675

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 6006
• ClinVar RCV Id: RCV000006374 ; RCV000006375 ; RCV001060497 ; RCV001831516 ; RCV003472984
• dbSNP Id: rs80338726
• ExAC: 7:95751008 G / GT
• gnomAD v2: 7-95751008-G-GT
• gnomAD v3: 7-96121696-G-GT
• gnomAD v4: 7-96121696-G-GT
• MyVariant Identifiers: chr7:g.95751009dupT (hg19) ; chr7:g.95751008_95751009insT (hg19) ; chr7:g.96121697dupT (hg38) ; chr7:g.96121696_96121697insT (hg38)
• PubMed: PMID:11153906 ; PMID:11343052 ; PMID:20301360

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121697dup , CM000669.2:g.96121697dup	GRCh38
NC_000007.13:g.95751009dup , CM000669.1:g.95751009dup	GRCh37
NC_000007.12:g.95588945dup	NCBI36
NG_012247.1:g.205451dup
NG_012247.2:g.205451dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1799dup MANE Select	ENSP00000265631.6:p.Tyr600Ter
ENST00000265631.9:c.1799dup	ENSP00000265631.5:p.Tyr600Ter
ENST00000416240.6:c.1802dup	ENSP00000400101.2:p.Tyr601Ter
ENST00000494085.1:n.302dup
NM_001160210.1:c.1802dup	NP_001153682.1:p.Tyr601Ter
NM_014251.2:c.1799dup	NP_055066.1:p.Tyr600Ter
NR_027662.1:n.1874dup
XM_006715831.2:c.1832dup	XP_006715894.1:p.Tyr611Ter
XM_011515728.1:c.947dup	XP_011514030.1:p.Tyr316Ter
XM_006715831.4:c.1832dup	XP_006715894.1:p.Tyr611Ter
XM_017011663.1:c.1790dup	XP_016867152.1:p.Tyr597Ter
XM_017011664.2:c.947dup	XP_016867153.1:p.Tyr316Ter
XM_017011665.1:c.947dup	XP_016867154.1:p.Tyr316Ter
XR_001744525.2:n.2045dup
XR_002956405.1:n.2603dup
NM_014251.3:c.1799dup MANE Select	NP_055066.1:p.Tyr600Ter
NR_027662.2:n.1825dup
NM_001160210.2:c.1802dup	NP_001153682.1:p.Tyr601Ter