Canonical Allele Identifier: CA4353030

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 991201
• ClinVar RCV Id: RCV001279374
• dbSNP Id: rs574856683
• ExAC: 7:95813597 A / T
• gnomAD v2: 7-95813597-A-T
• gnomAD v3: 7-96184285-A-T
• gnomAD v4: 7-96184285-A-T
• MyVariant Identifiers: chr7:g.95813597A>T (hg19) ; chr7:g.96184285A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184285A>T , CM000669.2:g.96184285A>T	GRCh38
NC_000007.13:g.95813597A>T , CM000669.1:g.95813597A>T	GRCh37
NC_000007.12:g.95651533A>T	NCBI36
NG_012247.1:g.142863T>A
NG_012247.2:g.142863T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1169T>A MANE Select	ENSP00000265631.6:p.Leu390Gln
ENST00000265631.9:c.1169T>A	ENSP00000265631.5:p.Leu390Gln
ENST00000416240.6:c.1172T>A	ENSP00000400101.2:p.Leu391Gln
ENST00000484495.5:n.322T>A
ENST00000490072.5:n.236T>A
ENST00000492869.1:n.290T>A
NM_001160210.1:c.1172T>A	NP_001153682.1:p.Leu391Gln
NM_014251.2:c.1169T>A	NP_055066.1:p.Leu390Gln
NR_027662.1:n.1244T>A
XM_006715831.2:c.1202T>A	XP_006715894.1:p.Leu401Gln
XM_011515727.1:c.1202T>A	XP_011514029.1:p.Leu401Gln
XM_011515728.1:c.317T>A	XP_011514030.1:p.Leu106Gln
XM_006715831.4:c.1202T>A	XP_006715894.1:p.Leu401Gln
XM_011515727.3:c.1202T>A	XP_011514029.1:p.Leu401Gln
XM_017011663.1:c.1160T>A	XP_016867152.1:p.Leu387Gln
XM_017011664.2:c.317T>A	XP_016867153.1:p.Leu106Gln
XM_017011665.1:c.317T>A	XP_016867154.1:p.Leu106Gln
XR_001744525.2:n.1340T>A
XR_002956405.1:n.1973T>A
NM_014251.3:c.1169T>A MANE Select	NP_055066.1:p.Leu390Gln
NR_027662.2:n.1195T>A
NM_001160210.2:c.1172T>A	NP_001153682.1:p.Leu391Gln