Canonical Allele Identifier: CA360694363
Gene: SLC25A46 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.110081980A>C (hg19) chr5:g.110746279A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746279A>C , CM000667.2:g.110746279A>C GRCh38
NC_000005.9:g.110081980A>C , CM000667.1:g.110081980A>C GRCh37
NC_000005.8:g.110109879A>C NCBI36
NG_051334.1:g.13144A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.395A>C MANE Select ENSP00000348211.3:p.His132Pro
ENST00000355943.7:c.395A>C ENSP00000348211.3:p.His132Pro
ENST00000447245.6:c.395A>C ENSP00000399717.2:p.His132Pro
ENST00000502462.6:n.711A>C
ENST00000504098.1:c.-44A>C ENSP00000425708.1:n.-44A>C
ENST00000508781.5:n.224A>C
ENST00000513807.5:c.-92A>C ENSP00000421134.1:n.-92A>C
NM_001303249.1:c.395A>C NP_001290178.1:p.His132Pro
NM_001303250.1:c.122A>C NP_001290179.1:p.His41Pro
NM_138773.2:c.395A>C NP_620128.1:p.His132Pro
XM_011543708.1:c.395A>C XP_011542010.1:p.His132Pro
NM_001303249.2:c.395A>C NP_001290178.1:p.His132Pro
NM_001303250.2:c.122A>C NP_001290179.1:p.His41Pro
NM_138773.3:c.395A>C NP_620128.1:p.His132Pro
NR_138151.1:n.543A>C
NM_138773.4:c.395A>C MANE Select NP_620128.1:p.His132Pro
NM_001303249.3:c.395A>C NP_001290178.1:p.His132Pro
NM_001303250.3:c.122A>C NP_001290179.1:p.His41Pro
NR_138151.2:n.508A>C
Search 100 bp 5'
Search 100 bp 3'