Canonical Allele Identifier: CA414113991
Gene: SLC25A53 HGNC NCBI
ZCCHC18 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.104114744G>C , CM000685.2:g.104114744G>C GRCh38
NC_000023.10:g.103359435G>C , CM000685.1:g.103359435G>C GRCh37
NC_000023.9:g.103246091G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000594199.3:c.-31-9456C>G (SLC25A53) MANE Select ENSP00000468980.1:n.-31-9456C>G
ENST00000650639.1:c.633G>C (ZCCHC18) MANE Select ENSP00000498828.1:p.Glu211Asp
ENST00000422784.5:n.651-508G>C (ZCCHC18)
ENST00000537356.3:c.633G>C (ZCCHC18) ENSP00000473824.1:p.Glu211Asp
ENST00000594199.2:c.-31-9456C>G (SLC25A53) ENSP00000468980.1:n.-31-9456C>G
ENST00000611638.4:c.633G>C (ZCCHC18) ENSP00000482195.1:p.Glu211Asp
NM_001012755.4:c.-31-9456C>G (SLC25A53) NP_001012773.2:n.-31-9456C>G
NM_001143978.2:c.633G>C (ZCCHC18) NP_001137450.1:p.Glu211Asp
NR_026694.2:n.669-508G>C (ZCCHC18)
XM_011531012.1:c.633G>C (ZCCHC18) XP_011529314.1:p.Glu211Asp
XM_011531012.3:c.633G>C (ZCCHC18) XP_011529314.1:p.Glu211Asp
NM_001012755.5:c.-31-9456C>G (SLC25A53) MANE Select NP_001012773.2:n.-31-9456C>G
NM_001143978.3:c.633G>C (ZCCHC18) MANE Select NP_001137450.1:p.Glu211Asp
NR_026694.3:n.672-508G>C (ZCCHC18)