Canonical Allele Identifier: CA162992426
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs919353076
gnomAD v3: 7-96121792-A-G
gnomAD v4: 7-96121792-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121792A>G , CM000669.2:g.96121792A>G GRCh38
NC_000007.13:g.95751104A>G , CM000669.1:g.95751104A>G GRCh37
NC_000007.12:g.95589040A>G NCBI36
NG_012247.1:g.205356T>C
NG_012247.2:g.205356T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.1751-47T>C MANE Select ENSP00000265631.6:n.1751-47T>C
ENST00000265631.9:c.1751-47T>C ENSP00000265631.5:n.1751-47T>C
ENST00000416240.6:c.1754-47T>C ENSP00000400101.2:n.1754-47T>C
ENST00000494085.1:n.207T>C
NM_001160210.1:c.1754-47T>C NP_001153682.1:n.1754-47T>C
NM_014251.2:c.1751-47T>C NP_055066.1:n.1751-47T>C
NR_027662.1:n.1826-47T>C
XM_006715831.2:c.1784-47T>C XP_006715894.1:n.1784-47T>C
XM_011515728.1:c.899-47T>C XP_011514030.1:n.899-47T>C
XM_006715831.4:c.1784-47T>C XP_006715894.1:n.1784-47T>C
XM_017011663.1:c.1742-47T>C XP_016867152.1:n.1742-47T>C
XM_017011664.2:c.899-47T>C XP_016867153.1:n.899-47T>C
XM_017011665.1:c.899-47T>C XP_016867154.1:n.899-47T>C
XR_001744525.2:n.1997-47T>C
XR_002956405.1:n.2555-47T>C
NM_014251.3:c.1751-47T>C MANE Select NP_055066.1:n.1751-47T>C
NR_027662.2:n.1777-47T>C
NM_001160210.2:c.1754-47T>C NP_001153682.1:n.1754-47T>C