Canonical Allele Identifier: CA368260087

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 1207220
• ClinVar RCV Id: RCV001575138 ; RCV001832789 ; RCV002495921
• dbSNP Id: rs776461118
• gnomAD v3: 7-96184297-C-G
• gnomAD v4: 7-96184297-C-G
• MyVariant Identifiers: chr7:g.95813609C>G (hg19) ; chr7:g.96184297C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184297C>G , CM000669.2:g.96184297C>G	GRCh38
NC_000007.13:g.95813609C>G , CM000669.1:g.95813609C>G	GRCh37
NC_000007.12:g.95651545C>G	NCBI36
NG_012247.1:g.142851G>C
NG_012247.2:g.142851G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1157G>C MANE Select	ENSP00000265631.6:p.Gly386Ala
ENST00000265631.9:c.1157G>C	ENSP00000265631.5:p.Gly386Ala
ENST00000416240.6:c.1160G>C	ENSP00000400101.2:p.Gly387Ala
ENST00000484495.5:n.310G>C
ENST00000490072.5:n.224G>C
ENST00000492869.1:n.278G>C
NM_001160210.1:c.1160G>C	NP_001153682.1:p.Gly387Ala
NM_014251.2:c.1157G>C	NP_055066.1:p.Gly386Ala
NR_027662.1:n.1232G>C
XM_006715831.2:c.1190G>C	XP_006715894.1:p.Gly397Ala
XM_011515727.1:c.1190G>C	XP_011514029.1:p.Gly397Ala
XM_011515728.1:c.305G>C	XP_011514030.1:p.Gly102Ala
XM_006715831.4:c.1190G>C	XP_006715894.1:p.Gly397Ala
XM_011515727.3:c.1190G>C	XP_011514029.1:p.Gly397Ala
XM_017011663.1:c.1148G>C	XP_016867152.1:p.Gly383Ala
XM_017011664.2:c.305G>C	XP_016867153.1:p.Gly102Ala
XM_017011665.1:c.305G>C	XP_016867154.1:p.Gly102Ala
XR_001744525.2:n.1328G>C
XR_002956405.1:n.1961G>C
NM_014251.3:c.1157G>C MANE Select	NP_055066.1:p.Gly386Ala
NR_027662.2:n.1183G>C
NM_001160210.2:c.1160G>C	NP_001153682.1:p.Gly387Ala