Canonical Allele Identifier: CA368258191
Gene: SLC25A13 HGNC NCBI

Linked Data

gnomAD v4: 7-96121901-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121901A>T , CM000669.2:g.96121901A>T GRCh38
NC_000007.13:g.95751213A>T , CM000669.1:g.95751213A>T GRCh37
NC_000007.12:g.95589149A>T NCBI36
NG_012247.1:g.205247T>A
NG_012247.2:g.205247T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.1688T>A MANE Select ENSP00000265631.6:p.Ile563Lys
ENST00000265631.9:c.1688T>A ENSP00000265631.5:p.Ile563Lys
ENST00000416240.6:c.1691T>A ENSP00000400101.2:p.Ile564Lys
ENST00000494085.1:n.98T>A
NM_001160210.1:c.1691T>A NP_001153682.1:p.Ile564Lys
NM_014251.2:c.1688T>A NP_055066.1:p.Ile563Lys
NR_027662.1:n.1763T>A
XM_006715831.2:c.1721T>A XP_006715894.1:p.Ile574Lys
XM_011515728.1:c.836T>A XP_011514030.1:p.Ile279Lys
XM_006715831.4:c.1721T>A XP_006715894.1:p.Ile574Lys
XM_017011663.1:c.1679T>A XP_016867152.1:p.Ile560Lys
XM_017011664.2:c.836T>A XP_016867153.1:p.Ile279Lys
XM_017011665.1:c.836T>A XP_016867154.1:p.Ile279Lys
XR_001744525.2:n.1934T>A
XR_002956405.1:n.2492T>A
NM_014251.3:c.1688T>A MANE Select NP_055066.1:p.Ile563Lys
NR_027662.2:n.1714T>A
NM_001160210.2:c.1691T>A NP_001153682.1:p.Ile564Lys