Canonical Allele Identifier: CA3364572
Gene: SLC25A46 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110743794G>A , CM000667.2:g.110743794G>A GRCh38
NC_000005.9:g.110079495G>A , CM000667.1:g.110079495G>A GRCh37
NC_000005.8:g.110107394G>A NCBI36
NG_051334.1:g.10659G>A

Transcript Alleles

HGVS Amino-acid Change
NM_138773.4:c.384+7G>A MANE Select NP_620128.1:n.384+7G>A
ENST00000355943.8:c.384+7G>A MANE Select ENSP00000348211.3:n.384+7G>A
NM_001303249.1:c.384+7G>A NP_001290178.1:n.384+7G>A
NM_001303249.2:c.384+7G>A NP_001290178.1:n.384+7G>A
NM_001303249.3:c.384+7G>A NP_001290178.1:n.384+7G>A
NM_001303250.1:c.111+7G>A NP_001290179.1:n.111+7G>A
NM_001303250.2:c.111+7G>A NP_001290179.1:n.111+7G>A
NM_001303250.3:c.111+7G>A NP_001290179.1:n.111+7G>A
NM_138773.2:c.384+7G>A NP_620128.1:n.384+7G>A
NM_138773.3:c.384+7G>A NP_620128.1:n.384+7G>A
NR_138151.1:n.532+7G>A
NR_138151.2:n.497+7G>A
ENST00000355943.7:c.384+7G>A ENSP00000348211.3:n.384+7G>A
ENST00000447245.6:c.384+7G>A ENSP00000399717.2:n.384+7G>A
ENST00000504098.1:c.-55+7G>A ENSP00000425708.1:n.-55+7G>A
ENST00000508781.5:n.213+7G>A
ENST00000513807.5:c.-103+7G>A ENSP00000421134.1:n.-103+7G>A
XM_011543708.1:c.384+7G>A XP_011542010.1:n.384+7G>A