Canonical Allele Identifier: CA364720108

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310163A>G (hg19) ; chr6:g.73600440A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600440A>G , CM000668.2:g.73600440A>G	GRCh38
NC_000006.11:g.74310163A>G , CM000668.1:g.74310163A>G	GRCh37
NC_000006.10:g.74366884A>G	NCBI36
NG_008272.1:g.58575T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1261T>C MANE Select	ENSP00000348019.5:p.Tyr421His
ENST00000355773.5:c.1261T>C	ENSP00000348019.5:p.Tyr421His
NM_012434.4:c.1261T>C	NP_036566.1:p.Tyr421His
XM_005248710.2:c.1210T>C	XP_005248767.1:p.Tyr404His
XM_005248711.1:c.1063T>C	XP_005248768.1:p.Tyr355His
XM_011535750.1:c.1113T>C	XP_011534052.1:p.Gly371=
NM_012434.5:c.1261T>C MANE Select	NP_036566.1:p.Tyr421His
NM_001382629.1:c.1030T>C	NP_001369558.1:p.Tyr344His
NM_001382630.1:c.1260-5226T>C	NP_001369559.1:n.1260-5226T>C
NM_001382631.1:c.1282T>C	NP_001369560.1:p.Tyr428His
NM_001382632.1:c.1174T>C	NP_001369561.1:p.Tyr392His
NM_001382633.1:c.1261T>C	NP_001369562.1:p.Tyr421His
NM_001382634.1:c.1102T>C	NP_001369563.1:p.Tyr368His
NM_001382635.1:c.1258T>C	NP_001369564.1:p.Tyr420His
NM_001382636.1:c.943T>C	NP_001369565.1:p.Tyr315His