Canonical Allele Identifier: CA342162
Gene: SLC25A13 HGNC NCBI

Linked Data

ClinVar Variation Id: 21517
ClinVar RCV Id: RCV000020707 RCV000733522 RCV000779548 RCV000811639 RCV001272104 RCV002259308
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
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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
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