Canonical Allele Identifier: CA360694352
Gene: SLC25A46 HGNC NCBI

Linked Data

dbSNP Id: rs1554092057
gnomAD v4: 5-110746275-T-C
MyVariant Identifiers: chr5:g.110081976T>C (hg19) chr5:g.110746275T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746275T>C , CM000667.2:g.110746275T>C GRCh38
NC_000005.9:g.110081976T>C , CM000667.1:g.110081976T>C GRCh37
NC_000005.8:g.110109875T>C NCBI36
NG_051334.1:g.13140T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.391T>C MANE Select ENSP00000348211.3:p.Tyr131His
ENST00000355943.7:c.391T>C ENSP00000348211.3:p.Tyr131His
ENST00000447245.6:c.391T>C ENSP00000399717.2:p.Tyr131His
ENST00000502462.6:n.707T>C
ENST00000504098.1:c.-48T>C ENSP00000425708.1:n.-48T>C
ENST00000508781.5:n.220T>C
ENST00000513807.5:c.-96T>C ENSP00000421134.1:n.-96T>C
NM_001303249.1:c.391T>C NP_001290178.1:p.Tyr131His
NM_001303250.1:c.118T>C NP_001290179.1:p.Tyr40His
NM_138773.2:c.391T>C NP_620128.1:p.Tyr131His
XM_011543708.1:c.391T>C XP_011542010.1:p.Tyr131His
NM_001303249.2:c.391T>C NP_001290178.1:p.Tyr131His
NM_001303250.2:c.118T>C NP_001290179.1:p.Tyr40His
NM_138773.3:c.391T>C NP_620128.1:p.Tyr131His
NR_138151.1:n.539T>C
NM_138773.4:c.391T>C MANE Select NP_620128.1:p.Tyr131His
NM_001303249.3:c.391T>C NP_001290178.1:p.Tyr131His
NM_001303250.3:c.118T>C NP_001290179.1:p.Tyr40His
NR_138151.2:n.504T>C
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