Canonical Allele Identifier: CA4353437

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361027
• ClinVar RCV Id: RCV000329771 ; RCV000386707 ; RCV001095252 ; RCV003897806
• dbSNP Id: rs774562949
• ExAC: 7:95951263 C / A
• gnomAD v2: 7-95951263-C-A
• gnomAD v3: 7-96321951-C-A
• gnomAD v4: 7-96321951-C-A
• MyVariant Identifiers: chr7:g.95951263C>A (hg19) ; chr7:g.96321951C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96321951C>A , CM000669.2:g.96321951C>A	GRCh38
NC_000007.13:g.95951263C>A , CM000669.1:g.95951263C>A	GRCh37
NC_000007.12:g.95789199C>A	NCBI36
NG_012247.1:g.5197G>T
NG_012247.2:g.5197G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.6G>T MANE Select	ENSP00000265631.6:p.Ala2=
ENST00000265631.9:c.6G>T	ENSP00000265631.5:p.Ala2=
ENST00000416240.6:c.6G>T	ENSP00000400101.2:p.Ala2=
ENST00000472162.2:c.6G>T	ENSP00000473505.1:p.Ala2=
NM_001160210.1:c.6G>T	NP_001153682.1:p.Ala2=
NM_014251.2:c.6G>T	NP_055066.1:p.Ala2=
NR_027662.1:n.197G>T
XM_011515727.3:c.-116G>T	XP_011514029.1:n.-116G>T
XM_017011664.2:c.-753G>T	XP_016867153.1:n.-753G>T
XM_017011665.1:c.-637G>T	XP_016867154.1:n.-637G>T
XR_001744525.2:n.177G>T
XR_002956405.1:n.165G>T
NM_014251.3:c.6G>T MANE Select	NP_055066.1:p.Ala2=
NR_027662.2:n.148G>T
NM_001160210.2:c.6G>T	NP_001153682.1:p.Ala2=