Canonical Allele Identifier: CA364720039

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310132G>A (hg19) ; chr6:g.73600409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600409G>A , CM000668.2:g.73600409G>A	GRCh38
NC_000006.11:g.74310132G>A , CM000668.1:g.74310132G>A	GRCh37
NC_000006.10:g.74366853G>A	NCBI36
NG_008272.1:g.58606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1292C>T MANE Select	ENSP00000348019.5:p.Thr431Ile
ENST00000355773.5:c.1292C>T	ENSP00000348019.5:p.Thr431Ile
NM_012434.4:c.1292C>T	NP_036566.1:p.Thr431Ile
XM_005248710.2:c.1241C>T	XP_005248767.1:p.Thr414Ile
XM_005248711.1:c.1094C>T	XP_005248768.1:p.Thr365Ile
XM_011535750.1:c.1144C>T	XP_011534052.1:p.His382Tyr
NM_012434.5:c.1292C>T MANE Select	NP_036566.1:p.Thr431Ile
NM_001382629.1:c.1061C>T	NP_001369558.1:p.Thr354Ile
NM_001382630.1:c.1260-5195C>T	NP_001369559.1:n.1260-5195C>T
NM_001382631.1:c.1313C>T	NP_001369560.1:p.Thr438Ile
NM_001382632.1:c.1205C>T	NP_001369561.1:p.Thr402Ile
NM_001382633.1:c.1292C>T	NP_001369562.1:p.Thr431Ile
NM_001382634.1:c.1133C>T	NP_001369563.1:p.Thr378Ile
NM_001382635.1:c.1289C>T	NP_001369564.1:p.Thr430Ile
NM_001382636.1:c.974C>T	NP_001369565.1:p.Thr325Ile