Canonical Allele Identifier: CA2695199580
Gene: SLC25A13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678809

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121913dup , CM000669.2:g.96121913dup GRCh38
NC_000007.13:g.95751225dup , CM000669.1:g.95751225dup GRCh37
NC_000007.12:g.95589161dup NCBI36
NG_012247.1:g.205235dup
NG_012247.2:g.205235dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.1676dup MANE Select ENSP00000265631.6:p.Tyr559Ter
ENST00000265631.9:c.1676dup ENSP00000265631.5:p.Tyr559Ter
ENST00000416240.6:c.1679dup ENSP00000400101.2:p.Tyr560Ter
ENST00000494085.1:n.86dup
NM_001160210.1:c.1679dup NP_001153682.1:p.Tyr560Ter
NM_014251.2:c.1676dup NP_055066.1:p.Tyr559Ter
NR_027662.1:n.1751dup
XM_006715831.2:c.1709dup XP_006715894.1:p.Tyr570Ter
XM_011515728.1:c.824dup XP_011514030.1:p.Tyr275Ter
XM_006715831.4:c.1709dup XP_006715894.1:p.Tyr570Ter
XM_017011663.1:c.1667dup XP_016867152.1:p.Tyr556Ter
XM_017011664.2:c.824dup XP_016867153.1:p.Tyr275Ter
XM_017011665.1:c.824dup XP_016867154.1:p.Tyr275Ter
XR_001744525.2:n.1922dup
XR_002956405.1:n.2480dup
NM_014251.3:c.1676dup MANE Select NP_055066.1:p.Tyr559Ter
NR_027662.2:n.1702dup
NM_001160210.2:c.1679dup NP_001153682.1:p.Tyr560Ter