Canonical Allele Identifier: CA342154
Gene: SLC25A13 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121695C>T , CM000669.2:g.96121695C>T GRCh38
NC_000007.13:g.95751007C>T , CM000669.1:g.95751007C>T GRCh37
NC_000007.12:g.95588943C>T NCBI36
NG_012247.1:g.205453G>A
NG_012247.2:g.205453G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.1801G>A MANE Select ENSP00000265631.6:p.Glu601Lys
ENST00000265631.9:c.1801G>A ENSP00000265631.5:p.Glu601Lys
ENST00000416240.6:c.1804G>A ENSP00000400101.2:p.Glu602Lys
ENST00000494085.1:n.304G>A
NM_001160210.1:c.1804G>A NP_001153682.1:p.Glu602Lys
NM_014251.2:c.1801G>A NP_055066.1:p.Glu601Lys
NR_027662.1:n.1876G>A
XM_006715831.2:c.1834G>A XP_006715894.1:p.Glu612Lys
XM_011515728.1:c.949G>A XP_011514030.1:p.Glu317Lys
XM_006715831.4:c.1834G>A XP_006715894.1:p.Glu612Lys
XM_017011663.1:c.1792G>A XP_016867152.1:p.Glu598Lys
XM_017011664.2:c.949G>A XP_016867153.1:p.Glu317Lys
XM_017011665.1:c.949G>A XP_016867154.1:p.Glu317Lys
XR_001744525.2:n.2047G>A
XR_002956405.1:n.2605G>A
NM_014251.3:c.1801G>A MANE Select NP_055066.1:p.Glu601Lys
NR_027662.2:n.1827G>A
NM_001160210.2:c.1804G>A NP_001153682.1:p.Glu602Lys