Canonical Allele Identifier: CA364720035

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310129A>T (hg19) ; chr6:g.73600406A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600406A>T , CM000668.2:g.73600406A>T	GRCh38
NC_000006.11:g.74310129A>T , CM000668.1:g.74310129A>T	GRCh37
NC_000006.10:g.74366850A>T	NCBI36
NG_008272.1:g.58609T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1295T>A MANE Select	ENSP00000348019.5:p.Phe432Tyr
ENST00000355773.5:c.1295T>A	ENSP00000348019.5:p.Phe432Tyr
NM_012434.4:c.1295T>A	NP_036566.1:p.Phe432Tyr
XM_005248710.2:c.1244T>A	XP_005248767.1:p.Phe415Tyr
XM_005248711.1:c.1097T>A	XP_005248768.1:p.Phe366Tyr
XM_011535750.1:c.1147T>A	XP_011534052.1:p.Leu383Met
NM_012434.5:c.1295T>A MANE Select	NP_036566.1:p.Phe432Tyr
NM_001382629.1:c.1064T>A	NP_001369558.1:p.Phe355Tyr
NM_001382630.1:c.1260-5192T>A	NP_001369559.1:n.1260-5192T>A
NM_001382631.1:c.1316T>A	NP_001369560.1:p.Phe439Tyr
NM_001382632.1:c.1208T>A	NP_001369561.1:p.Phe403Tyr
NM_001382633.1:c.1295T>A	NP_001369562.1:p.Phe432Tyr
NM_001382634.1:c.1136T>A	NP_001369563.1:p.Phe379Tyr
NM_001382635.1:c.1292T>A	NP_001369564.1:p.Phe431Tyr
NM_001382636.1:c.977T>A	NP_001369565.1:p.Phe326Tyr