Canonical Allele Identifier: CA456631668
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs1791514437
MyVariant Identifiers: chr7:g.95751014C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121702C>T , CM000669.2:g.96121702C>T GRCh38
NC_000007.13:g.95751014C>T , CM000669.1:g.95751014C>T GRCh37
NC_000007.12:g.95588950C>T NCBI36
NG_012247.1:g.205446G>A
NG_012247.2:g.205446G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.1794G>A MANE Select ENSP00000265631.6:p.Leu598=
ENST00000265631.9:c.1794G>A ENSP00000265631.5:p.Leu598=
ENST00000416240.6:c.1797G>A ENSP00000400101.2:p.Leu599=
ENST00000494085.1:n.297G>A
NM_001160210.1:c.1797G>A NP_001153682.1:p.Leu599=
NM_014251.2:c.1794G>A NP_055066.1:p.Leu598=
NR_027662.1:n.1869G>A
XM_006715831.2:c.1827G>A XP_006715894.1:p.Leu609=
XM_011515728.1:c.942G>A XP_011514030.1:p.Leu314=
XM_006715831.4:c.1827G>A XP_006715894.1:p.Leu609=
XM_017011663.1:c.1785G>A XP_016867152.1:p.Leu595=
XM_017011664.2:c.942G>A XP_016867153.1:p.Leu314=
XM_017011665.1:c.942G>A XP_016867154.1:p.Leu314=
XR_001744525.2:n.2040G>A
XR_002956405.1:n.2598G>A
NM_014251.3:c.1794G>A MANE Select NP_055066.1:p.Leu598=
NR_027662.2:n.1820G>A
NM_001160210.2:c.1797G>A NP_001153682.1:p.Leu599=