Canonical Allele Identifier: CA360694342
Gene: SLC25A46 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.110081971T>A (hg19) chr5:g.110746270T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746270T>A , CM000667.2:g.110746270T>A GRCh38
NC_000005.9:g.110081971T>A , CM000667.1:g.110081971T>A GRCh37
NC_000005.8:g.110109870T>A NCBI36
NG_051334.1:g.13135T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.386T>A MANE Select ENSP00000348211.3:p.Val129Asp
ENST00000355943.7:c.386T>A ENSP00000348211.3:p.Val129Asp
ENST00000447245.6:c.386T>A ENSP00000399717.2:p.Val129Asp
ENST00000502462.6:n.702T>A
ENST00000504098.1:c.-53T>A ENSP00000425708.1:n.-53T>A
ENST00000508781.5:n.215T>A
ENST00000513807.5:c.-101T>A ENSP00000421134.1:n.-101T>A
NM_001303249.1:c.386T>A NP_001290178.1:p.Val129Asp
NM_001303250.1:c.113T>A NP_001290179.1:p.Val38Asp
NM_138773.2:c.386T>A NP_620128.1:p.Val129Asp
XM_011543708.1:c.386T>A XP_011542010.1:p.Val129Asp
NM_001303249.2:c.386T>A NP_001290178.1:p.Val129Asp
NM_001303250.2:c.113T>A NP_001290179.1:p.Val38Asp
NM_138773.3:c.386T>A NP_620128.1:p.Val129Asp
NR_138151.1:n.534T>A
NM_138773.4:c.386T>A MANE Select NP_620128.1:p.Val129Asp
NM_001303249.3:c.386T>A NP_001290178.1:p.Val129Asp
NM_001303250.3:c.113T>A NP_001290179.1:p.Val38Asp
NR_138151.2:n.499T>A
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