Canonical Allele Identifier: CA4353038

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361022
• ClinVar RCV Id: RCV000292722 ; RCV000350029 ; RCV002519511 ; RCV001095144 ; RCV001272331
• dbSNP Id: rs35996658
• ExAC: 7:95813678 C / A
• gnomAD v2: 7-95813678-C-A
• gnomAD v3: 7-96184366-C-A
• gnomAD v4: 7-96184366-C-A
• MyVariant Identifiers: chr7:g.95813678C>A (hg19) ; chr7:g.96184366C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184366C>A , CM000669.2:g.96184366C>A	GRCh38
NC_000007.13:g.95813678C>A , CM000669.1:g.95813678C>A	GRCh37
NC_000007.12:g.95651614C>A	NCBI36
NG_012247.1:g.142782G>T
NG_012247.2:g.142782G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1088G>T MANE Select	ENSP00000265631.6:p.Gly363Val
ENST00000265631.9:c.1088G>T	ENSP00000265631.5:p.Gly363Val
ENST00000416240.6:c.1091G>T	ENSP00000400101.2:p.Gly364Val
ENST00000484495.5:n.241G>T
ENST00000490072.5:n.155G>T
ENST00000492869.1:n.209G>T
NM_001160210.1:c.1091G>T	NP_001153682.1:p.Gly364Val
NM_014251.2:c.1088G>T	NP_055066.1:p.Gly363Val
NR_027662.1:n.1163G>T
XM_006715831.2:c.1121G>T	XP_006715894.1:p.Gly374Val
XM_011515727.1:c.1121G>T	XP_011514029.1:p.Gly374Val
XM_011515728.1:c.236G>T	XP_011514030.1:p.Gly79Val
XM_006715831.4:c.1121G>T	XP_006715894.1:p.Gly374Val
XM_011515727.3:c.1121G>T	XP_011514029.1:p.Gly374Val
XM_017011663.1:c.1079G>T	XP_016867152.1:p.Gly360Val
XM_017011664.2:c.236G>T	XP_016867153.1:p.Gly79Val
XM_017011665.1:c.236G>T	XP_016867154.1:p.Gly79Val
XR_001744525.2:n.1259G>T
XR_002956405.1:n.1892G>T
NM_014251.3:c.1088G>T MANE Select	NP_055066.1:p.Gly363Val
NR_027662.2:n.1114G>T
NM_001160210.2:c.1091G>T	NP_001153682.1:p.Gly364Val