Canonical Allele Identifier: CA2683824726
Gene: SLC25A13 HGNC NCBI

Linked Data

gnomAD v4: 7-96121811-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121811G>A , CM000669.2:g.96121811G>A GRCh38
NC_000007.13:g.95751123G>A , CM000669.1:g.95751123G>A GRCh37
NC_000007.12:g.95589059G>A NCBI36
NG_012247.1:g.205337C>T
NG_012247.2:g.205337C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.1750+28C>T MANE Select ENSP00000265631.6:n.1750+28C>T
ENST00000265631.9:c.1750+28C>T ENSP00000265631.5:n.1750+28C>T
ENST00000416240.6:c.1753+28C>T ENSP00000400101.2:n.1753+28C>T
ENST00000494085.1:n.188C>T
NM_001160210.1:c.1753+28C>T NP_001153682.1:n.1753+28C>T
NM_014251.2:c.1750+28C>T NP_055066.1:n.1750+28C>T
NR_027662.1:n.1825+28C>T
XM_006715831.2:c.1783+28C>T XP_006715894.1:n.1783+28C>T
XM_011515728.1:c.898+28C>T XP_011514030.1:n.898+28C>T
XM_006715831.4:c.1783+28C>T XP_006715894.1:n.1783+28C>T
XM_017011663.1:c.1741+28C>T XP_016867152.1:n.1741+28C>T
XM_017011664.2:c.898+28C>T XP_016867153.1:n.898+28C>T
XM_017011665.1:c.898+28C>T XP_016867154.1:n.898+28C>T
XR_001744525.2:n.1996+28C>T
XR_002956405.1:n.2554+28C>T
NM_014251.3:c.1750+28C>T MANE Select NP_055066.1:n.1750+28C>T
NR_027662.2:n.1776+28C>T
NM_001160210.2:c.1753+28C>T NP_001153682.1:n.1753+28C>T