Canonical Allele Identifier: CA360694340
Gene: SLC25A46 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.110081970G>C (hg19) chr5:g.110746269G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746269G>C , CM000667.2:g.110746269G>C GRCh38
NC_000005.9:g.110081970G>C , CM000667.1:g.110081970G>C GRCh37
NC_000005.8:g.110109869G>C NCBI36
NG_051334.1:g.13134G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.385G>C MANE Select ENSP00000348211.3:p.Val129Leu
ENST00000355943.7:c.385G>C ENSP00000348211.3:p.Val129Leu
ENST00000447245.6:c.385G>C ENSP00000399717.2:p.Val129Leu
ENST00000502462.6:n.701G>C
ENST00000504098.1:c.-54G>C ENSP00000425708.1:n.-54G>C
ENST00000508781.5:n.214G>C
ENST00000513807.5:c.-102G>C ENSP00000421134.1:n.-102G>C
NM_001303249.1:c.385G>C NP_001290178.1:p.Val129Leu
NM_001303250.1:c.112G>C NP_001290179.1:p.Val38Leu
NM_138773.2:c.385G>C NP_620128.1:p.Val129Leu
XM_011543708.1:c.385G>C XP_011542010.1:p.Val129Leu
NM_001303249.2:c.385G>C NP_001290178.1:p.Val129Leu
NM_001303250.2:c.112G>C NP_001290179.1:p.Val38Leu
NM_138773.3:c.385G>C NP_620128.1:p.Val129Leu
NR_138151.1:n.533G>C
NM_138773.4:c.385G>C MANE Select NP_620128.1:p.Val129Leu
NM_001303249.3:c.385G>C NP_001290178.1:p.Val129Leu
NM_001303250.3:c.112G>C NP_001290179.1:p.Val38Leu
NR_138151.2:n.498G>C
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