Canonical Allele Identifier: CA450912688

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310137T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600414T>A , CM000668.2:g.73600414T>A	GRCh38
NC_000006.11:g.74310137T>A , CM000668.1:g.74310137T>A	GRCh37
NC_000006.10:g.74366858T>A	NCBI36
NG_008272.1:g.58601A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1287A>T MANE Select	ENSP00000348019.5:p.Thr429=
ENST00000355773.5:c.1287A>T	ENSP00000348019.5:p.Thr429=
NM_012434.4:c.1287A>T	NP_036566.1:p.Thr429=
XM_005248710.2:c.1236A>T	XP_005248767.1:p.Thr412=
XM_005248711.1:c.1089A>T	XP_005248768.1:p.Thr363=
XM_011535750.1:c.1139A>T	XP_011534052.1:p.Gln380Leu
NM_012434.5:c.1287A>T MANE Select	NP_036566.1:p.Thr429=
NM_001382629.1:c.1056A>T	NP_001369558.1:p.Thr352=
NM_001382630.1:c.1260-5200A>T	NP_001369559.1:n.1260-5200A>T
NM_001382631.1:c.1308A>T	NP_001369560.1:p.Thr436=
NM_001382632.1:c.1200A>T	NP_001369561.1:p.Thr400=
NM_001382633.1:c.1287A>T	NP_001369562.1:p.Thr429=
NM_001382634.1:c.1128A>T	NP_001369563.1:p.Thr376=
NM_001382635.1:c.1284A>T	NP_001369564.1:p.Thr428=
NM_001382636.1:c.969A>T	NP_001369565.1:p.Thr323=