Canonical Allele Identifier: CA4352746

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 2435988
• ClinVar RCV Id: RCV003136738
• dbSNP Id: rs151330313
• ExAC: 7:95750622 C / T
• gnomAD v2: 7-95750622-C-T
• gnomAD v3: 7-96121310-C-T
• gnomAD v4: 7-96121310-C-T
• MyVariant Identifiers: chr7:g.95750622C>T (hg19) ; chr7:g.96121310C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121310C>T , CM000669.2:g.96121310C>T	GRCh38
NC_000007.13:g.95750622C>T , CM000669.1:g.95750622C>T	GRCh37
NC_000007.12:g.95588558C>T	NCBI36
NG_012247.1:g.205838G>A
NG_012247.2:g.205838G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1909G>A MANE Select	ENSP00000265631.6:p.Val637Ile
ENST00000265631.9:c.1909G>A	ENSP00000265631.5:p.Val637Ile
ENST00000416240.6:c.1912G>A	ENSP00000400101.2:p.Val638Ile
ENST00000494085.1:n.412G>A
NM_001160210.1:c.1912G>A	NP_001153682.1:p.Val638Ile
NM_014251.2:c.1909G>A	NP_055066.1:p.Val637Ile
NR_027662.1:n.1984G>A
XM_006715831.2:c.1942G>A	XP_006715894.1:p.Val648Ile
XM_011515728.1:c.1057G>A	XP_011514030.1:p.Val353Ile
XM_006715831.4:c.1942G>A	XP_006715894.1:p.Val648Ile
XM_017011663.1:c.1900G>A	XP_016867152.1:p.Val634Ile
XM_017011664.2:c.1057G>A	XP_016867153.1:p.Val353Ile
XM_017011665.1:c.1057G>A	XP_016867154.1:p.Val353Ile
XR_001744525.2:n.2155G>A
XR_002956405.1:n.2713G>A
NM_014251.3:c.1909G>A MANE Select	NP_055066.1:p.Val637Ile
NR_027662.2:n.1935G>A
NM_001160210.2:c.1912G>A	NP_001153682.1:p.Val638Ile