Canonical Allele Identifier: CA450912613

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310107A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600384A>T , CM000668.2:g.73600384A>T	GRCh38
NC_000006.11:g.74310107A>T , CM000668.1:g.74310107A>T	GRCh37
NC_000006.10:g.74366828A>T	NCBI36
NG_008272.1:g.58631T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1317T>A MANE Select	ENSP00000348019.5:p.Val439=
ENST00000355773.5:c.1317T>A	ENSP00000348019.5:p.Val439=
NM_012434.4:c.1317T>A	NP_036566.1:p.Val439=
XM_005248710.2:c.1266T>A	XP_005248767.1:p.Val422=
XM_005248711.1:c.1119T>A	XP_005248768.1:p.Val373=
XM_011535750.1:c.1169T>A	XP_011534052.1:p.Leu390Ter
NM_012434.5:c.1317T>A MANE Select	NP_036566.1:p.Val439=
NM_001382629.1:c.1086T>A	NP_001369558.1:p.Val362=
NM_001382630.1:c.1260-5170T>A	NP_001369559.1:n.1260-5170T>A
NM_001382631.1:c.1338T>A	NP_001369560.1:p.Val446=
NM_001382632.1:c.1230T>A	NP_001369561.1:p.Val410=
NM_001382633.1:c.1317T>A	NP_001369562.1:p.Val439=
NM_001382634.1:c.1158T>A	NP_001369563.1:p.Val386=
NM_001382635.1:c.1314T>A	NP_001369564.1:p.Val438=
NM_001382636.1:c.999T>A	NP_001369565.1:p.Val333=