Canonical Allele Identifier: CA368257800

Gene: SLC25A13

Linked Data

• MyVariant Identifiers: chr7:g.95751015A>T (hg19) ; chr7:g.96121703A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121703A>T , CM000669.2:g.96121703A>T	GRCh38
NC_000007.13:g.95751015A>T , CM000669.1:g.95751015A>T	GRCh37
NC_000007.12:g.95588951A>T	NCBI36
NG_012247.1:g.205445T>A
NG_012247.2:g.205445T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1793T>A MANE Select	ENSP00000265631.6:p.Leu598Gln
ENST00000265631.9:c.1793T>A	ENSP00000265631.5:p.Leu598Gln
ENST00000416240.6:c.1796T>A	ENSP00000400101.2:p.Leu599Gln
ENST00000494085.1:n.296T>A
NM_001160210.1:c.1796T>A	NP_001153682.1:p.Leu599Gln
NM_014251.2:c.1793T>A	NP_055066.1:p.Leu598Gln
NR_027662.1:n.1868T>A
XM_006715831.2:c.1826T>A	XP_006715894.1:p.Leu609Gln
XM_011515728.1:c.941T>A	XP_011514030.1:p.Leu314Gln
XM_006715831.4:c.1826T>A	XP_006715894.1:p.Leu609Gln
XM_017011663.1:c.1784T>A	XP_016867152.1:p.Leu595Gln
XM_017011664.2:c.941T>A	XP_016867153.1:p.Leu314Gln
XM_017011665.1:c.941T>A	XP_016867154.1:p.Leu314Gln
XR_001744525.2:n.2039T>A
XR_002956405.1:n.2597T>A
NM_014251.3:c.1793T>A MANE Select	NP_055066.1:p.Leu598Gln
NR_027662.2:n.1819T>A
NM_001160210.2:c.1796T>A	NP_001153682.1:p.Leu599Gln