Canonical Allele Identifier: CA450912674

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310131T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600408T>G , CM000668.2:g.73600408T>G	GRCh38
NC_000006.11:g.74310131T>G , CM000668.1:g.74310131T>G	GRCh37
NC_000006.10:g.74366852T>G	NCBI36
NG_008272.1:g.58607A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1293A>C MANE Select	ENSP00000348019.5:p.Thr431=
ENST00000355773.5:c.1293A>C	ENSP00000348019.5:p.Thr431=
NM_012434.4:c.1293A>C	NP_036566.1:p.Thr431=
XM_005248710.2:c.1242A>C	XP_005248767.1:p.Thr414=
XM_005248711.1:c.1095A>C	XP_005248768.1:p.Thr365=
XM_011535750.1:c.1145A>C	XP_011534052.1:p.His382Pro
NM_012434.5:c.1293A>C MANE Select	NP_036566.1:p.Thr431=
NM_001382629.1:c.1062A>C	NP_001369558.1:p.Thr354=
NM_001382630.1:c.1260-5194A>C	NP_001369559.1:n.1260-5194A>C
NM_001382631.1:c.1314A>C	NP_001369560.1:p.Thr438=
NM_001382632.1:c.1206A>C	NP_001369561.1:p.Thr402=
NM_001382633.1:c.1293A>C	NP_001369562.1:p.Thr431=
NM_001382634.1:c.1134A>C	NP_001369563.1:p.Thr378=
NM_001382635.1:c.1290A>C	NP_001369564.1:p.Thr430=
NM_001382636.1:c.975A>C	NP_001369565.1:p.Thr325=