Canonical Allele Identifier: CA368263333

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1794919983
• gnomAD v3: 7-96193069-A-C
• gnomAD v4: 7-96193069-A-C
• MyVariant Identifiers: chr7:g.95822381A>C (hg19) ; chr7:g.96193069A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96193069A>C , CM000669.2:g.96193069A>C	GRCh38
NC_000007.13:g.95822381A>C , CM000669.1:g.95822381A>C	GRCh37
NC_000007.12:g.95660317A>C	NCBI36
NG_012247.1:g.134079T>G
NG_012247.2:g.134079T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.583T>G MANE Select	ENSP00000265631.6:p.Leu195Val
ENST00000265631.9:c.583T>G	ENSP00000265631.5:p.Leu195Val
ENST00000416240.6:c.583T>G	ENSP00000400101.2:p.Leu195Val
NM_001160210.1:c.583T>G	NP_001153682.1:p.Leu195Val
NM_014251.2:c.583T>G	NP_055066.1:p.Leu195Val
NR_027662.1:n.658T>G
XM_006715831.2:c.616T>G	XP_006715894.1:p.Leu206Val
XM_011515727.1:c.616T>G	XP_011514029.1:p.Leu206Val
XM_006715831.4:c.616T>G	XP_006715894.1:p.Leu206Val
XM_011515727.3:c.616T>G	XP_011514029.1:p.Leu206Val
XM_017011663.1:c.574T>G	XP_016867152.1:p.Leu192Val
XM_017011664.2:c.-176T>G	XP_016867153.1:n.-176T>G
XM_017011665.1:c.-176T>G	XP_016867154.1:n.-176T>G
XR_001744525.2:n.754T>G
XR_002956405.1:n.896T>G
NM_014251.3:c.583T>G MANE Select	NP_055066.1:p.Leu195Val
NR_027662.2:n.609T>G
NM_001160210.2:c.583T>G	NP_001153682.1:p.Leu195Val