Canonical Allele Identifier: CA4352889

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 252921
• ClinVar RCV Id: RCV000239389 ; RCV000595565 ; RCV001163201 ; RCV002057271 ; RCV003475850 ; RCV003909878
• dbSNP Id: rs139149160
• ExAC: 7:95761141 G / A
• gnomAD v2: 7-95761141-G-A
• gnomAD v3: 7-96131829-G-A
• gnomAD v4: 7-96131829-G-A
• MyVariant Identifiers: chr7:g.95761141G>A (hg19) ; chr7:g.96131829G>A (hg38)
• PubMed: PMID:21507300

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96131829G>A , CM000669.2:g.96131829G>A	GRCh38
NC_000007.13:g.95761141G>A , CM000669.1:g.95761141G>A	GRCh37
NC_000007.12:g.95599077G>A	NCBI36
NG_012247.1:g.195319C>T
NG_012247.2:g.195319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1505C>T MANE Select	ENSP00000265631.6:p.Pro502Leu
ENST00000265631.9:c.1505C>T	ENSP00000265631.5:p.Pro502Leu
ENST00000416240.6:c.1508C>T	ENSP00000400101.2:p.Pro503Leu
NM_001160210.1:c.1508C>T	NP_001153682.1:p.Pro503Leu
NM_014251.2:c.1505C>T	NP_055066.1:p.Pro502Leu
NR_027662.1:n.1580C>T
XM_006715831.2:c.1538C>T	XP_006715894.1:p.Pro513Leu
XM_011515728.1:c.653C>T	XP_011514030.1:p.Pro218Leu
XM_006715831.4:c.1538C>T	XP_006715894.1:p.Pro513Leu
XM_017011663.1:c.1496C>T	XP_016867152.1:p.Pro499Leu
XM_017011664.2:c.653C>T	XP_016867153.1:p.Pro218Leu
XM_017011665.1:c.653C>T	XP_016867154.1:p.Pro218Leu
XR_001744525.2:n.1751C>T
XR_002956405.1:n.2309C>T
NM_014251.3:c.1505C>T MANE Select	NP_055066.1:p.Pro502Leu
NR_027662.2:n.1531C>T
NM_001160210.2:c.1508C>T	NP_001153682.1:p.Pro503Leu