Canonical Allele Identifier: CA450912637

Gene: SLC17A5

Linked Data

• dbSNP Id: rs2150075857
• MyVariant Identifiers: chr6:g.74310119A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600396A>T , CM000668.2:g.73600396A>T	GRCh38
NC_000006.11:g.74310119A>T , CM000668.1:g.74310119A>T	GRCh37
NC_000006.10:g.74366840A>T	NCBI36
NG_008272.1:g.58619T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1305T>A MANE Select	ENSP00000348019.5:p.Ile435=
ENST00000355773.5:c.1305T>A	ENSP00000348019.5:p.Ile435=
NM_012434.4:c.1305T>A	NP_036566.1:p.Ile435=
XM_005248710.2:c.1254T>A	XP_005248767.1:p.Ile418=
XM_005248711.1:c.1107T>A	XP_005248768.1:p.Ile369=
XM_011535750.1:c.1157T>A	XP_011534052.1:p.Phe386Tyr
NM_012434.5:c.1305T>A MANE Select	NP_036566.1:p.Ile435=
NM_001382629.1:c.1074T>A	NP_001369558.1:p.Ile358=
NM_001382630.1:c.1260-5182T>A	NP_001369559.1:n.1260-5182T>A
NM_001382631.1:c.1326T>A	NP_001369560.1:p.Ile442=
NM_001382632.1:c.1218T>A	NP_001369561.1:p.Ile406=
NM_001382633.1:c.1305T>A	NP_001369562.1:p.Ile435=
NM_001382634.1:c.1146T>A	NP_001369563.1:p.Ile382=
NM_001382635.1:c.1302T>A	NP_001369564.1:p.Ile434=
NM_001382636.1:c.987T>A	NP_001369565.1:p.Ile329=