Canonical Allele Identifier: CA4353197
Gene: SLC25A13 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.96191189G>A
GRCh37 chr7:g.95820501G>A
Revel Score:
ENST00000265631 (MANE Select) 0.594
ENST00000416240 0.594
ENST00000542654 0.594
gnomAD v2:
7:95820501 G / A
gnomAD v3:
7:96191189 G / A
gnomAD v4:
chr7-96191189-G-A
Joint Max Group AF 0.00001298 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001214 (NFE)
ClinVar RCV:
RCV003324174
ClinVar Variation:
2577097
dbSNP:
80338719
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96191189G>A , CM000669.2:g.96191189G>A GRCh38
NC_000007.13:g.95820501G>A , CM000669.1:g.95820501G>A GRCh37
NC_000007.12:g.95658437G>A NCBI36
NG_012247.1:g.135959C>T
NG_012247.2:g.135959C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.674C>T MANE Select ENSP00000265631.6:p.Ser225Leu
ENST00000265631.9:c.674C>T ENSP00000265631.5:p.Ser225Leu
ENST00000416240.6:c.674C>T ENSP00000400101.2:p.Ser225Leu
NM_001160210.1:c.674C>T NP_001153682.1:p.Ser225Leu
NM_014251.2:c.674C>T NP_055066.1:p.Ser225Leu
NR_027662.1:n.749C>T
XM_006715831.2:c.707C>T XP_006715894.1:p.Ser236Leu
XM_011515727.1:c.707C>T XP_011514029.1:p.Ser236Leu
XM_011515728.1:c.-85C>T XP_011514030.1:n.-85C>T
XM_006715831.4:c.707C>T XP_006715894.1:p.Ser236Leu
XM_011515727.3:c.707C>T XP_011514029.1:p.Ser236Leu
XM_017011663.1:c.665C>T XP_016867152.1:p.Ser222Leu
XM_017011664.2:c.-85C>T XP_016867153.1:n.-85C>T
XM_017011665.1:c.-85C>T XP_016867154.1:n.-85C>T
XR_001744525.2:n.845C>T
XR_002956405.1:n.987C>T
NM_014251.3:c.674C>T MANE Select NP_055066.1:p.Ser225Leu
NR_027662.2:n.700C>T
NM_001160210.2:c.674C>T NP_001153682.1:p.Ser225Leu
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