Canonical Allele Identifier: CA1104148590
Gene: SLC25A40 HGNC NCBI

Linked Data

dbSNP Id: rs1838274292
gnomAD v3: 7-87837565-T-G
gnomAD v4: 7-87837565-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87837565T>G , CM000669.2:g.87837565T>G GRCh38
NC_000007.13:g.87466880T>G , CM000669.1:g.87466880T>G GRCh37
NC_000007.12:g.87304816T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000341119.10:c.824-755A>C MANE Select ENSP00000344831.5:n.824-755A>C
ENST00000341119.9:c.824-755A>C ENSP00000344831.5:n.824-755A>C
ENST00000429674.5:c.*641-755A>C ENSP00000405566.1:n.*641-755A>C
ENST00000446236.5:c.*187-755A>C ENSP00000401473.1:n.*187-755A>C
ENST00000470328.1:n.636-1204A>C
ENST00000496348.5:n.110-755A>C
NM_018843.3:c.824-755A>C NP_061331.2:n.824-755A>C
XM_005250496.3:c.824-755A>C XP_005250553.1:n.824-755A>C
XM_011516401.1:c.824-755A>C XP_011514703.1:n.824-755A>C
XM_011516402.1:c.824-755A>C XP_011514704.1:n.824-755A>C
XM_011516403.1:c.824-1204A>C XP_011514705.1:n.824-1204A>C
XM_011516404.1:c.638-755A>C XP_011514706.1:n.638-755A>C
XM_011516405.1:c.638-755A>C XP_011514707.1:n.638-755A>C
XR_927490.1:n.1300-755A>C
NM_018843.4:c.824-755A>C MANE Select NP_061331.2:n.824-755A>C