Canonical Allele Identifier: CA4353106

Gene: SLC25A13

Linked Data

• dbSNP Id: rs753493066
• ExAC: 7:95818648 T / C
• gnomAD v2: 7-95818648-T-C
• gnomAD v4: 7-96189336-T-C
• MyVariant Identifiers: chr7:g.95818648T>C (hg19) ; chr7:g.96189336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189336T>C , CM000669.2:g.96189336T>C	GRCh38
NC_000007.13:g.95818648T>C , CM000669.1:g.95818648T>C	GRCh37
NC_000007.12:g.95656584T>C	NCBI36
NG_012247.1:g.137812A>G
NG_012247.2:g.137812A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.891A>G MANE Select	ENSP00000265631.6:p.Glu297=
ENST00000265631.9:c.891A>G	ENSP00000265631.5:p.Glu297=
ENST00000416240.6:c.891A>G	ENSP00000400101.2:p.Glu297=
ENST00000484495.5:n.44A>G
NM_001160210.1:c.891A>G	NP_001153682.1:p.Glu297=
NM_014251.2:c.891A>G	NP_055066.1:p.Glu297=
NR_027662.1:n.966A>G
XM_006715831.2:c.924A>G	XP_006715894.1:p.Glu308=
XM_011515727.1:c.924A>G	XP_011514029.1:p.Glu308=
XM_011515728.1:c.39A>G	XP_011514030.1:p.Glu13=
XM_006715831.4:c.924A>G	XP_006715894.1:p.Glu308=
XM_011515727.3:c.924A>G	XP_011514029.1:p.Glu308=
XM_017011663.1:c.882A>G	XP_016867152.1:p.Glu294=
XM_017011664.2:c.39A>G	XP_016867153.1:p.Glu13=
XM_017011665.1:c.39A>G	XP_016867154.1:p.Glu13=
XR_001744525.2:n.1062A>G
XR_002956405.1:n.1204A>G
NM_014251.3:c.891A>G MANE Select	NP_055066.1:p.Glu297=
NR_027662.2:n.917A>G
NM_001160210.2:c.891A>G	NP_001153682.1:p.Glu297=