Canonical Allele Identifier: CA368260065
Gene: SLC25A13 HGNC NCBI

Linked Data

gnomAD v4: 7-96184288-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96184288C>A , CM000669.2:g.96184288C>A GRCh38
NC_000007.13:g.95813600C>A , CM000669.1:g.95813600C>A GRCh37
NC_000007.12:g.95651536C>A NCBI36
NG_012247.1:g.142860G>T
NG_012247.2:g.142860G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.1166G>T MANE Select ENSP00000265631.6:p.Gly389Val
ENST00000265631.9:c.1166G>T ENSP00000265631.5:p.Gly389Val
ENST00000416240.6:c.1169G>T ENSP00000400101.2:p.Gly390Val
ENST00000484495.5:n.319G>T
ENST00000490072.5:n.233G>T
ENST00000492869.1:n.287G>T
NM_001160210.1:c.1169G>T NP_001153682.1:p.Gly390Val
NM_014251.2:c.1166G>T NP_055066.1:p.Gly389Val
NR_027662.1:n.1241G>T
XM_006715831.2:c.1199G>T XP_006715894.1:p.Gly400Val
XM_011515727.1:c.1199G>T XP_011514029.1:p.Gly400Val
XM_011515728.1:c.314G>T XP_011514030.1:p.Gly105Val
XM_006715831.4:c.1199G>T XP_006715894.1:p.Gly400Val
XM_011515727.3:c.1199G>T XP_011514029.1:p.Gly400Val
XM_017011663.1:c.1157G>T XP_016867152.1:p.Gly386Val
XM_017011664.2:c.314G>T XP_016867153.1:p.Gly105Val
XM_017011665.1:c.314G>T XP_016867154.1:p.Gly105Val
XR_001744525.2:n.1337G>T
XR_002956405.1:n.1970G>T
NM_014251.3:c.1166G>T MANE Select NP_055066.1:p.Gly389Val
NR_027662.2:n.1192G>T
NM_001160210.2:c.1169G>T NP_001153682.1:p.Gly390Val