Canonical Allele Identifier: CA360697599

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761682-A-T
• COSMIC: COSM6469816
• MyVariant Identifiers: chr5:g.110097382A>T (hg19) ; chr5:g.110761682A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761682A>T , CM000667.2:g.110761682A>T	GRCh38
NC_000005.9:g.110097382A>T , CM000667.1:g.110097382A>T	GRCh37
NC_000005.8:g.110125281A>T	NCBI36
NG_051334.1:g.28547A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1157A>T MANE Select	ENSP00000348211.3:p.Tyr386Phe
ENST00000355943.7:c.1157A>T	ENSP00000348211.3:p.Tyr386Phe
ENST00000447245.6:c.914A>T	ENSP00000399717.2:p.Tyr305Phe
ENST00000504098.1:c.719A>T	ENSP00000425708.1:p.Tyr240Phe
ENST00000509432.1:c.518A>T	ENSP00000426604.1:p.Tyr173Phe
ENST00000513706.2:n.2757A>T
ENST00000513807.5:c.671A>T	ENSP00000421134.1:p.Tyr224Phe
NM_001303249.1:c.914A>T	NP_001290178.1:p.Tyr305Phe
NM_001303250.1:c.884A>T	NP_001290179.1:p.Tyr295Phe
NM_138773.2:c.1157A>T	NP_620128.1:p.Tyr386Phe
NM_001303249.2:c.914A>T	NP_001290178.1:p.Tyr305Phe
NM_001303250.2:c.884A>T	NP_001290179.1:p.Tyr295Phe
NM_138773.3:c.1157A>T	NP_620128.1:p.Tyr386Phe
NR_138151.1:n.1431A>T
NM_138773.4:c.1157A>T MANE Select	NP_620128.1:p.Tyr386Phe
NM_001303249.3:c.914A>T	NP_001290178.1:p.Tyr305Phe
NM_001303250.3:c.884A>T	NP_001290179.1:p.Tyr295Phe
NR_138151.2:n.1396A>T