Canonical Allele Identifier: CA414113452

Gene: SLC25A53 ZCCHC18

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.104114544G>T , CM000685.2:g.104114544G>T	GRCh38
NC_000023.10:g.103359235G>T , CM000685.1:g.103359235G>T	GRCh37
NC_000023.9:g.103245891G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000594199.3:c.-31-9256C>A (SLC25A53) MANE Select	ENSP00000468980.1:n.-31-9256C>A
ENST00000650639.1:c.433G>T (ZCCHC18) MANE Select	ENSP00000498828.1:p.Ala145Ser
ENST00000422784.5:n.651-708G>T (ZCCHC18)
ENST00000537356.3:c.433G>T (ZCCHC18)	ENSP00000473824.1:p.Ala145Ser
ENST00000594199.2:c.-31-9256C>A (SLC25A53)	ENSP00000468980.1:n.-31-9256C>A
ENST00000611638.4:c.433G>T (ZCCHC18)	ENSP00000482195.1:p.Ala145Ser
NM_001012755.4:c.-31-9256C>A (SLC25A53)	NP_001012773.2:n.-31-9256C>A
NM_001143978.2:c.433G>T (ZCCHC18)	NP_001137450.1:p.Ala145Ser
NR_026694.2:n.669-708G>T (ZCCHC18)
XM_011531012.1:c.433G>T (ZCCHC18)	XP_011529314.1:p.Ala145Ser
XM_011531012.3:c.433G>T (ZCCHC18)	XP_011529314.1:p.Ala145Ser
NM_001012755.5:c.-31-9256C>A (SLC25A53) MANE Select	NP_001012773.2:n.-31-9256C>A
NM_001143978.3:c.433G>T (ZCCHC18) MANE Select	NP_001137450.1:p.Ala145Ser
NR_026694.3:n.672-708G>T (ZCCHC18)