Canonical Allele Identifier: CA368263377
Gene: SLC25A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96193091C>G , CM000669.2:g.96193091C>G GRCh38
NC_000007.13:g.95822403C>G , CM000669.1:g.95822403C>G GRCh37
NC_000007.12:g.95660339C>G NCBI36
NG_012247.1:g.134057G>C
NG_012247.2:g.134057G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.561G>C MANE Select ENSP00000265631.6:p.Met187Ile
ENST00000265631.9:c.561G>C ENSP00000265631.5:p.Met187Ile
ENST00000416240.6:c.561G>C ENSP00000400101.2:p.Met187Ile
NM_001160210.1:c.561G>C NP_001153682.1:p.Met187Ile
NM_014251.2:c.561G>C NP_055066.1:p.Met187Ile
NR_027662.1:n.636G>C
XM_006715831.2:c.594G>C XP_006715894.1:p.Met198Ile
XM_011515727.1:c.594G>C XP_011514029.1:p.Met198Ile
XM_006715831.4:c.594G>C XP_006715894.1:p.Met198Ile
XM_011515727.3:c.594G>C XP_011514029.1:p.Met198Ile
XM_017011663.1:c.552G>C XP_016867152.1:p.Met184Ile
XM_017011664.2:c.-198G>C XP_016867153.1:n.-198G>C
XM_017011665.1:c.-198G>C XP_016867154.1:n.-198G>C
XR_001744525.2:n.732G>C
XR_002956405.1:n.874G>C
NM_014251.3:c.561G>C MANE Select NP_055066.1:p.Met187Ile
NR_027662.2:n.587G>C
NM_001160210.2:c.561G>C NP_001153682.1:p.Met187Ile