Canonical Allele Identifier: CA360694345
Gene: SLC25A46 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.110081973A>T (hg19) chr5:g.110746272A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746272A>T , CM000667.2:g.110746272A>T GRCh38
NC_000005.9:g.110081973A>T , CM000667.1:g.110081973A>T GRCh37
NC_000005.8:g.110109872A>T NCBI36
NG_051334.1:g.13137A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.388A>T MANE Select ENSP00000348211.3:p.Asn130Tyr
ENST00000355943.7:c.388A>T ENSP00000348211.3:p.Asn130Tyr
ENST00000447245.6:c.388A>T ENSP00000399717.2:p.Asn130Tyr
ENST00000502462.6:n.704A>T
ENST00000504098.1:c.-51A>T ENSP00000425708.1:n.-51A>T
ENST00000508781.5:n.217A>T
ENST00000513807.5:c.-99A>T ENSP00000421134.1:n.-99A>T
NM_001303249.1:c.388A>T NP_001290178.1:p.Asn130Tyr
NM_001303250.1:c.115A>T NP_001290179.1:p.Asn39Tyr
NM_138773.2:c.388A>T NP_620128.1:p.Asn130Tyr
XM_011543708.1:c.388A>T XP_011542010.1:p.Asn130Tyr
NM_001303249.2:c.388A>T NP_001290178.1:p.Asn130Tyr
NM_001303250.2:c.115A>T NP_001290179.1:p.Asn39Tyr
NM_138773.3:c.388A>T NP_620128.1:p.Asn130Tyr
NR_138151.1:n.536A>T
NM_138773.4:c.388A>T MANE Select NP_620128.1:p.Asn130Tyr
NM_001303249.3:c.388A>T NP_001290178.1:p.Asn130Tyr
NM_001303250.3:c.115A>T NP_001290179.1:p.Asn39Tyr
NR_138151.2:n.501A>T
Search 100 bp 5'
Search 100 bp 3'