Canonical Allele Identifier: CA368257816

Gene: SLC25A13

Linked Data

• MyVariant Identifiers: chr7:g.95751019A>C (hg19) ; chr7:g.96121707A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121707A>C , CM000669.2:g.96121707A>C	GRCh38
NC_000007.13:g.95751019A>C , CM000669.1:g.95751019A>C	GRCh37
NC_000007.12:g.95588955A>C	NCBI36
NG_012247.1:g.205441T>G
NG_012247.2:g.205441T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1789T>G MANE Select	ENSP00000265631.6:p.Leu597Val
ENST00000265631.9:c.1789T>G	ENSP00000265631.5:p.Leu597Val
ENST00000416240.6:c.1792T>G	ENSP00000400101.2:p.Leu598Val
ENST00000494085.1:n.292T>G
NM_001160210.1:c.1792T>G	NP_001153682.1:p.Leu598Val
NM_014251.2:c.1789T>G	NP_055066.1:p.Leu597Val
NR_027662.1:n.1864T>G
XM_006715831.2:c.1822T>G	XP_006715894.1:p.Leu608Val
XM_011515728.1:c.937T>G	XP_011514030.1:p.Leu313Val
XM_006715831.4:c.1822T>G	XP_006715894.1:p.Leu608Val
XM_017011663.1:c.1780T>G	XP_016867152.1:p.Leu594Val
XM_017011664.2:c.937T>G	XP_016867153.1:p.Leu313Val
XM_017011665.1:c.937T>G	XP_016867154.1:p.Leu313Val
XR_001744525.2:n.2035T>G
XR_002956405.1:n.2593T>G
NM_014251.3:c.1789T>G MANE Select	NP_055066.1:p.Leu597Val
NR_027662.2:n.1815T>G
NM_001160210.2:c.1792T>G	NP_001153682.1:p.Leu598Val