Canonical Allele Identifier: CA368257348

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 595001
• ClinVar RCV Id: RCV000730425
• dbSNP Id: rs151330313
• gnomAD v4: 7-96121310-C-G
• MyVariant Identifiers: chr7:g.95750622C>G (hg19) ; chr7:g.96121310C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1909G>C MANE Select	ENSP00000265631.6:p.Val637Leu
ENST00000265631.9:c.1909G>C	ENSP00000265631.5:p.Val637Leu
ENST00000416240.6:c.1912G>C	ENSP00000400101.2:p.Val638Leu
ENST00000494085.1:n.412G>C
NM_001160210.1:c.1912G>C	NP_001153682.1:p.Val638Leu
NM_014251.2:c.1909G>C	NP_055066.1:p.Val637Leu
NR_027662.1:n.1984G>C
XM_006715831.2:c.1942G>C	XP_006715894.1:p.Val648Leu
XM_011515728.1:c.1057G>C	XP_011514030.1:p.Val353Leu
XM_006715831.4:c.1942G>C	XP_006715894.1:p.Val648Leu
XM_017011663.1:c.1900G>C	XP_016867152.1:p.Val634Leu
XM_017011664.2:c.1057G>C	XP_016867153.1:p.Val353Leu
XM_017011665.1:c.1057G>C	XP_016867154.1:p.Val353Leu
XR_001744525.2:n.2155G>C
XR_002956405.1:n.2713G>C
NM_014251.3:c.1909G>C MANE Select	NP_055066.1:p.Val637Leu
NR_027662.2:n.1935G>C
NM_001160210.2:c.1912G>C	NP_001153682.1:p.Val638Leu