Canonical Allele Identifier: CA4352838

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 1348003
• ClinVar RCV Id: RCV002044107 ; RCV002503355 ; RCV003107862 ; RCV003470948 ; RCV003892887
• dbSNP Id: rs548769905
• ExAC: 7:95751264 G / C
• gnomAD v2: 7-95751264-G-C
• gnomAD v3: 7-96121952-G-C
• gnomAD v4: 7-96121952-G-C
• MyVariant Identifiers: chr7:g.95751264G>C (hg19) ; chr7:g.96121952G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121952G>C , CM000669.2:g.96121952G>C	GRCh38
NC_000007.13:g.95751264G>C , CM000669.1:g.95751264G>C	GRCh37
NC_000007.12:g.95589200G>C	NCBI36
NG_012247.1:g.205196C>G
NG_012247.2:g.205196C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1637C>G MANE Select	ENSP00000265631.6:p.Thr546Arg
ENST00000265631.9:c.1637C>G	ENSP00000265631.5:p.Thr546Arg
ENST00000416240.6:c.1640C>G	ENSP00000400101.2:p.Thr547Arg
ENST00000494085.1:n.47C>G
NM_001160210.1:c.1640C>G	NP_001153682.1:p.Thr547Arg
NM_014251.2:c.1637C>G	NP_055066.1:p.Thr546Arg
NR_027662.1:n.1712C>G
XM_006715831.2:c.1670C>G	XP_006715894.1:p.Thr557Arg
XM_011515728.1:c.785C>G	XP_011514030.1:p.Thr262Arg
XM_006715831.4:c.1670C>G	XP_006715894.1:p.Thr557Arg
XM_017011663.1:c.1628C>G	XP_016867152.1:p.Thr543Arg
XM_017011664.2:c.785C>G	XP_016867153.1:p.Thr262Arg
XM_017011665.1:c.785C>G	XP_016867154.1:p.Thr262Arg
XR_001744525.2:n.1883C>G
XR_002956405.1:n.2441C>G
NM_014251.3:c.1637C>G MANE Select	NP_055066.1:p.Thr546Arg
NR_027662.2:n.1663C>G
NM_001160210.2:c.1640C>G	NP_001153682.1:p.Thr547Arg