Canonical Allele Identifier: CA368257817

Gene: SLC25A13

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1789T>A MANE Select	ENSP00000265631.6:p.Leu597Met
ENST00000265631.9:c.1789T>A	ENSP00000265631.5:p.Leu597Met
ENST00000416240.6:c.1792T>A	ENSP00000400101.2:p.Leu598Met
ENST00000494085.1:n.292T>A
NM_001160210.1:c.1792T>A	NP_001153682.1:p.Leu598Met
NM_014251.2:c.1789T>A	NP_055066.1:p.Leu597Met
NR_027662.1:n.1864T>A
XM_006715831.2:c.1822T>A	XP_006715894.1:p.Leu608Met
XM_011515728.1:c.937T>A	XP_011514030.1:p.Leu313Met
XM_006715831.4:c.1822T>A	XP_006715894.1:p.Leu608Met
XM_017011663.1:c.1780T>A	XP_016867152.1:p.Leu594Met
XM_017011664.2:c.937T>A	XP_016867153.1:p.Leu313Met
XM_017011665.1:c.937T>A	XP_016867154.1:p.Leu313Met
XR_001744525.2:n.2035T>A
XR_002956405.1:n.2593T>A
NM_014251.3:c.1789T>A MANE Select	NP_055066.1:p.Leu597Met
NR_027662.2:n.1815T>A
NM_001160210.2:c.1792T>A	NP_001153682.1:p.Leu598Met