Canonical Allele Identifier: CA368262142
Gene: SLC25A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189325A>G , CM000669.2:g.96189325A>G GRCh38
NC_000007.13:g.95818637A>G , CM000669.1:g.95818637A>G GRCh37
NC_000007.12:g.95656573A>G NCBI36
NG_012247.1:g.137823T>C
NG_012247.2:g.137823T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.902T>C MANE Select ENSP00000265631.6:p.Leu301Pro
ENST00000265631.9:c.902T>C ENSP00000265631.5:p.Leu301Pro
ENST00000416240.6:c.902T>C ENSP00000400101.2:p.Leu301Pro
ENST00000484495.5:n.55T>C
NM_001160210.1:c.902T>C NP_001153682.1:p.Leu301Pro
NM_014251.2:c.902T>C NP_055066.1:p.Leu301Pro
NR_027662.1:n.977T>C
XM_006715831.2:c.935T>C XP_006715894.1:p.Leu312Pro
XM_011515727.1:c.935T>C XP_011514029.1:p.Leu312Pro
XM_011515728.1:c.50T>C XP_011514030.1:p.Leu17Pro
XM_006715831.4:c.935T>C XP_006715894.1:p.Leu312Pro
XM_011515727.3:c.935T>C XP_011514029.1:p.Leu312Pro
XM_017011663.1:c.893T>C XP_016867152.1:p.Leu298Pro
XM_017011664.2:c.50T>C XP_016867153.1:p.Leu17Pro
XM_017011665.1:c.50T>C XP_016867154.1:p.Leu17Pro
XR_001744525.2:n.1073T>C
XR_002956405.1:n.1215T>C
NM_014251.3:c.902T>C MANE Select NP_055066.1:p.Leu301Pro
NR_027662.2:n.928T>C
NM_001160210.2:c.902T>C NP_001153682.1:p.Leu301Pro