Canonical Allele Identifier: CA360697904

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761757-C-T
• MyVariant Identifiers: chr5:g.110097457C>T (hg19) ; chr5:g.110761757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761757C>T , CM000667.2:g.110761757C>T	GRCh38
NC_000005.9:g.110097457C>T , CM000667.1:g.110097457C>T	GRCh37
NC_000005.8:g.110125356C>T	NCBI36
NG_051334.1:g.28622C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1232C>T MANE Select	ENSP00000348211.3:p.Ser411Phe
ENST00000355943.7:c.1232C>T	ENSP00000348211.3:p.Ser411Phe
ENST00000447245.6:c.989C>T	ENSP00000399717.2:p.Ser330Phe
ENST00000504098.1:c.794C>T	ENSP00000425708.1:p.Ser265Phe
ENST00000509432.1:c.593C>T	ENSP00000426604.1:p.Ser198Phe
ENST00000513706.2:n.2832C>T
ENST00000513807.5:c.746C>T	ENSP00000421134.1:p.Ser249Phe
NM_001303249.1:c.989C>T	NP_001290178.1:p.Ser330Phe
NM_001303250.1:c.959C>T	NP_001290179.1:p.Ser320Phe
NM_138773.2:c.1232C>T	NP_620128.1:p.Ser411Phe
NM_001303249.2:c.989C>T	NP_001290178.1:p.Ser330Phe
NM_001303250.2:c.959C>T	NP_001290179.1:p.Ser320Phe
NM_138773.3:c.1232C>T	NP_620128.1:p.Ser411Phe
NR_138151.1:n.1506C>T
NM_138773.4:c.1232C>T MANE Select	NP_620128.1:p.Ser411Phe
NM_001303249.3:c.989C>T	NP_001290178.1:p.Ser330Phe
NM_001303250.3:c.959C>T	NP_001290179.1:p.Ser320Phe
NR_138151.2:n.1471C>T