Canonical Allele Identifier: CA4352758
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs201468457
gnomAD v2: 7-95750701-G-A
gnomAD v3: 7-96121389-G-A
gnomAD v4: 7-96121389-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121389G>A , CM000669.2:g.96121389G>A GRCh38
NC_000007.13:g.95750701G>A , CM000669.1:g.95750701G>A GRCh37
NC_000007.12:g.95588637G>A NCBI36
NG_012247.1:g.205759C>T
NG_012247.2:g.205759C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.1842-12C>T MANE Select ENSP00000265631.6:n.1842-12C>T
ENST00000265631.9:c.1842-12C>T ENSP00000265631.5:n.1842-12C>T
ENST00000416240.6:c.1845-12C>T ENSP00000400101.2:n.1845-12C>T
ENST00000494085.1:n.345-12C>T
NM_001160210.1:c.1845-12C>T NP_001153682.1:n.1845-12C>T
NM_014251.2:c.1842-12C>T NP_055066.1:n.1842-12C>T
NR_027662.1:n.1917-12C>T
XM_006715831.2:c.1875-12C>T XP_006715894.1:n.1875-12C>T
XM_011515728.1:c.990-12C>T XP_011514030.1:n.990-12C>T
XM_006715831.4:c.1875-12C>T XP_006715894.1:n.1875-12C>T
XM_017011663.1:c.1833-12C>T XP_016867152.1:n.1833-12C>T
XM_017011664.2:c.990-12C>T XP_016867153.1:n.990-12C>T
XM_017011665.1:c.990-12C>T XP_016867154.1:n.990-12C>T
XR_001744525.2:n.2088-12C>T
XR_002956405.1:n.2646-12C>T
NM_014251.3:c.1842-12C>T MANE Select NP_055066.1:n.1842-12C>T
NR_027662.2:n.1868-12C>T
NM_001160210.2:c.1845-12C>T NP_001153682.1:n.1845-12C>T