Canonical Allele Identifier: CA342162

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 21517
• ClinVar RCV Id: RCV000020707 ; RCV000779548 ; RCV000811639 ; RCV000733522 ; RCV001272104 ; RCV002259308 ; RCV003924850
• dbSNP Id: rs80338717
• ExAC: 7:95822344 C / T
• gnomAD v2: 7-95822344-C-T
• gnomAD v3: 7-96193032-C-T
• gnomAD v4: 7-96193032-C-T
• MyVariant Identifiers: chr7:g.95822344C>T (hg19) ; chr7:g.96193032C>T (hg38)
• PubMed: PMID:15050970 ; PMID:20301360

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96193032C>T , CM000669.2:g.96193032C>T	GRCh38
NC_000007.13:g.95822344C>T , CM000669.1:g.95822344C>T	GRCh37
NC_000007.12:g.95660280C>T	NCBI36
NG_012247.1:g.134116G>A
NG_012247.2:g.134116G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.615+5G>A MANE Select	ENSP00000265631.6:n.615+5G>A
ENST00000265631.9:c.615+5G>A	ENSP00000265631.5:n.615+5G>A
ENST00000416240.6:c.615+5G>A	ENSP00000400101.2:n.615+5G>A
NM_001160210.1:c.615+5G>A	NP_001153682.1:n.615+5G>A
NM_014251.2:c.615+5G>A	NP_055066.1:n.615+5G>A
NR_027662.1:n.690+5G>A
XM_006715831.2:c.648+5G>A	XP_006715894.1:n.648+5G>A
XM_011515727.1:c.648+5G>A	XP_011514029.1:n.648+5G>A
XM_006715831.4:c.648+5G>A	XP_006715894.1:n.648+5G>A
XM_011515727.3:c.648+5G>A	XP_011514029.1:n.648+5G>A
XM_017011663.1:c.606+5G>A	XP_016867152.1:n.606+5G>A
XM_017011664.2:c.-144+5G>A	XP_016867153.1:n.-144+5G>A
XM_017011665.1:c.-144+5G>A	XP_016867154.1:n.-144+5G>A
XR_001744525.2:n.786+5G>A
XR_002956405.1:n.928+5G>A
NM_014251.3:c.615+5G>A MANE Select	NP_055066.1:n.615+5G>A
NR_027662.2:n.641+5G>A
NM_001160210.2:c.615+5G>A	NP_001153682.1:n.615+5G>A