Canonical Allele Identifier: CA360694369
Gene: SLC25A46 HGNC NCBI

Linked Data

gnomAD v4: 5-110746281-G-C
MyVariant Identifiers: chr5:g.110081982G>C (hg19) chr5:g.110746281G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746281G>C , CM000667.2:g.110746281G>C GRCh38
NC_000005.9:g.110081982G>C , CM000667.1:g.110081982G>C GRCh37
NC_000005.8:g.110109881G>C NCBI36
NG_051334.1:g.13146G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.397G>C MANE Select ENSP00000348211.3:p.Ala133Pro
ENST00000355943.7:c.397G>C ENSP00000348211.3:p.Ala133Pro
ENST00000447245.6:c.397G>C ENSP00000399717.2:p.Ala133Pro
ENST00000502462.6:n.713G>C
ENST00000504098.1:c.-42G>C ENSP00000425708.1:n.-42G>C
ENST00000508781.5:n.226G>C
ENST00000513807.5:c.-90G>C ENSP00000421134.1:n.-90G>C
NM_001303249.1:c.397G>C NP_001290178.1:p.Ala133Pro
NM_001303250.1:c.124G>C NP_001290179.1:p.Ala42Pro
NM_138773.2:c.397G>C NP_620128.1:p.Ala133Pro
XM_011543708.1:c.397G>C XP_011542010.1:p.Ala133Pro
NM_001303249.2:c.397G>C NP_001290178.1:p.Ala133Pro
NM_001303250.2:c.124G>C NP_001290179.1:p.Ala42Pro
NM_138773.3:c.397G>C NP_620128.1:p.Ala133Pro
NR_138151.1:n.545G>C
NM_138773.4:c.397G>C MANE Select NP_620128.1:p.Ala133Pro
NM_001303249.3:c.397G>C NP_001290178.1:p.Ala133Pro
NM_001303250.3:c.124G>C NP_001290179.1:p.Ala42Pro
NR_138151.2:n.510G>C
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