Canonical Allele Identifier: CA16616908

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 417947
• ClinVar RCV Id: RCV000477873
• dbSNP Id: rs1060499612
• gnomAD v3: 7-96208837-C-G
• gnomAD v4: 7-96208837-C-G
• MyVariant Identifiers: chr7:g.95838149C>G (hg19) ; chr7:g.96208837C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96208837C>G , CM000669.2:g.96208837C>G	GRCh38
NC_000007.13:g.95838149C>G , CM000669.1:g.95838149C>G	GRCh37
NC_000007.12:g.95676085C>G	NCBI36
NG_012247.1:g.118311G>C
NG_012247.2:g.118311G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.468+1G>C MANE Select	ENSP00000265631.6:n.468+1G>C
ENST00000265631.9:c.468+1G>C	ENSP00000265631.5:n.468+1G>C
ENST00000416240.6:c.468+1G>C	ENSP00000400101.2:n.468+1G>C
ENST00000472162.2:c.*130+1G>C	ENSP00000473505.1:n.*130+1G>C
NM_001160210.1:c.468+1G>C	NP_001153682.1:n.468+1G>C
NM_014251.2:c.468+1G>C	NP_055066.1:n.468+1G>C
NR_027662.1:n.543+1G>C
XM_006715831.2:c.501+1G>C	XP_006715894.1:n.501+1G>C
XM_011515727.1:c.501+1G>C	XP_011514029.1:n.501+1G>C
XM_006715831.4:c.501+1G>C	XP_006715894.1:n.501+1G>C
XM_011515727.3:c.501+1G>C	XP_011514029.1:n.501+1G>C
XM_017011663.1:c.459+1G>C	XP_016867152.1:n.459+1G>C
XM_017011664.2:c.-291+1G>C	XP_016867153.1:n.-291+1G>C
XM_017011665.1:c.-291+1G>C	XP_016867154.1:n.-291+1G>C
XR_001744525.2:n.639+1G>C
XR_002956405.1:n.781+1G>C
NM_014251.3:c.468+1G>C MANE Select	NP_055066.1:n.468+1G>C
NR_027662.2:n.494+1G>C
NM_001160210.2:c.468+1G>C	NP_001153682.1:n.468+1G>C