Canonical Allele Identifier: CA368260061
Gene: SLC25A13 HGNC NCBI

Linked Data

gnomAD v4: 7-96184285-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96184285A>G , CM000669.2:g.96184285A>G GRCh38
NC_000007.13:g.95813597A>G , CM000669.1:g.95813597A>G GRCh37
NC_000007.12:g.95651533A>G NCBI36
NG_012247.1:g.142863T>C
NG_012247.2:g.142863T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.1169T>C MANE Select ENSP00000265631.6:p.Leu390Pro
ENST00000265631.9:c.1169T>C ENSP00000265631.5:p.Leu390Pro
ENST00000416240.6:c.1172T>C ENSP00000400101.2:p.Leu391Pro
ENST00000484495.5:n.322T>C
ENST00000490072.5:n.236T>C
ENST00000492869.1:n.290T>C
NM_001160210.1:c.1172T>C NP_001153682.1:p.Leu391Pro
NM_014251.2:c.1169T>C NP_055066.1:p.Leu390Pro
NR_027662.1:n.1244T>C
XM_006715831.2:c.1202T>C XP_006715894.1:p.Leu401Pro
XM_011515727.1:c.1202T>C XP_011514029.1:p.Leu401Pro
XM_011515728.1:c.317T>C XP_011514030.1:p.Leu106Pro
XM_006715831.4:c.1202T>C XP_006715894.1:p.Leu401Pro
XM_011515727.3:c.1202T>C XP_011514029.1:p.Leu401Pro
XM_017011663.1:c.1160T>C XP_016867152.1:p.Leu387Pro
XM_017011664.2:c.317T>C XP_016867153.1:p.Leu106Pro
XM_017011665.1:c.317T>C XP_016867154.1:p.Leu106Pro
XR_001744525.2:n.1340T>C
XR_002956405.1:n.1973T>C
NM_014251.3:c.1169T>C MANE Select NP_055066.1:p.Leu390Pro
NR_027662.2:n.1195T>C
NM_001160210.2:c.1172T>C NP_001153682.1:p.Leu391Pro