Canonical Allele Identifier: CA364720064

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310142T>C (hg19) ; chr6:g.73600419T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600419T>C , CM000668.2:g.73600419T>C	GRCh38
NC_000006.11:g.74310142T>C , CM000668.1:g.74310142T>C	GRCh37
NC_000006.10:g.74366863T>C	NCBI36
NG_008272.1:g.58596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1282A>G MANE Select	ENSP00000348019.5:p.Ile428Val
ENST00000355773.5:c.1282A>G	ENSP00000348019.5:p.Ile428Val
NM_012434.4:c.1282A>G	NP_036566.1:p.Ile428Val
XM_005248710.2:c.1231A>G	XP_005248767.1:p.Ile411Val
XM_005248711.1:c.1084A>G	XP_005248768.1:p.Ile362Val
XM_011535750.1:c.1134A>G	XP_011534052.1:p.Ala378=
NM_012434.5:c.1282A>G MANE Select	NP_036566.1:p.Ile428Val
NM_001382629.1:c.1051A>G	NP_001369558.1:p.Ile351Val
NM_001382630.1:c.1260-5205A>G	NP_001369559.1:n.1260-5205A>G
NM_001382631.1:c.1303A>G	NP_001369560.1:p.Ile435Val
NM_001382632.1:c.1195A>G	NP_001369561.1:p.Ile399Val
NM_001382633.1:c.1282A>G	NP_001369562.1:p.Ile428Val
NM_001382634.1:c.1123A>G	NP_001369563.1:p.Ile375Val
NM_001382635.1:c.1279A>G	NP_001369564.1:p.Ile427Val
NM_001382636.1:c.964A>G	NP_001369565.1:p.Ile322Val