Canonical Allele Identifier: CA445964722

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761542-C-T
• COSMIC: COSM5582526
• MyVariant Identifiers: chr5:g.110097242C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761542C>T , CM000667.2:g.110761542C>T	GRCh38
NC_000005.9:g.110097242C>T , CM000667.1:g.110097242C>T	GRCh37
NC_000005.8:g.110125141C>T	NCBI36
NG_051334.1:g.28407C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.1017C>T MANE Select	ENSP00000348211.3:p.His339=
ENST00000355943.7:c.1017C>T	ENSP00000348211.3:p.His339=
ENST00000447245.6:c.774C>T	ENSP00000399717.2:p.His258=
ENST00000502462.6:n.1333C>T
ENST00000504098.1:c.579C>T	ENSP00000425708.1:p.His193=
ENST00000509432.1:c.378C>T	ENSP00000426604.1:p.His126=
ENST00000513706.2:n.2617C>T
ENST00000513807.5:c.531C>T	ENSP00000421134.1:p.His177=
NM_001303249.1:c.774C>T	NP_001290178.1:p.His258=
NM_001303250.1:c.744C>T	NP_001290179.1:p.His248=
NM_138773.2:c.1017C>T	NP_620128.1:p.His339=
NM_001303249.2:c.774C>T	NP_001290178.1:p.His258=
NM_001303250.2:c.744C>T	NP_001290179.1:p.His248=
NM_138773.3:c.1017C>T	NP_620128.1:p.His339=
NR_138151.1:n.1291C>T
NM_138773.4:c.1017C>T MANE Select	NP_620128.1:p.His339=
NM_001303249.3:c.774C>T	NP_001290178.1:p.His258=
NM_001303250.3:c.744C>T	NP_001290179.1:p.His248=
NR_138151.2:n.1256C>T