Canonical Allele Identifier: CA576707789
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs749618819
gnomAD v2: 7-95818726-C-A
gnomAD v4: 7-96189414-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189414C>A , CM000669.2:g.96189414C>A GRCh38
NC_000007.13:g.95818726C>A , CM000669.1:g.95818726C>A GRCh37
NC_000007.12:g.95656662C>A NCBI36
NG_012247.1:g.137734G>T
NG_012247.2:g.137734G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.849-36G>T MANE Select ENSP00000265631.6:n.849-36G>T
ENST00000265631.9:c.849-36G>T ENSP00000265631.5:n.849-36G>T
ENST00000416240.6:c.849-36G>T ENSP00000400101.2:n.849-36G>T
NM_001160210.1:c.849-36G>T NP_001153682.1:n.849-36G>T
NM_014251.2:c.849-36G>T NP_055066.1:n.849-36G>T
NR_027662.1:n.924-36G>T
XM_006715831.2:c.882-36G>T XP_006715894.1:n.882-36G>T
XM_011515727.1:c.882-36G>T XP_011514029.1:n.882-36G>T
XM_011515728.1:c.-4-36G>T XP_011514030.1:n.-4-36G>T
XM_006715831.4:c.882-36G>T XP_006715894.1:n.882-36G>T
XM_011515727.3:c.882-36G>T XP_011514029.1:n.882-36G>T
XM_017011663.1:c.840-36G>T XP_016867152.1:n.840-36G>T
XM_017011664.2:c.-4-36G>T XP_016867153.1:n.-4-36G>T
XM_017011665.1:c.-4-36G>T XP_016867154.1:n.-4-36G>T
XR_001744525.2:n.1020-36G>T
XR_002956405.1:n.1162-36G>T
NM_014251.3:c.849-36G>T MANE Select NP_055066.1:n.849-36G>T
NR_027662.2:n.875-36G>T
NM_001160210.2:c.849-36G>T NP_001153682.1:n.849-36G>T