Canonical Allele Identifier: CA364719957

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310090T>C (hg19) ; chr6:g.73600367T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600367T>C , CM000668.2:g.73600367T>C	GRCh38
NC_000006.11:g.74310090T>C , CM000668.1:g.74310090T>C	GRCh37
NC_000006.10:g.74366811T>C	NCBI36
NG_008272.1:g.58648A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1334A>G MANE Select	ENSP00000348019.5:p.Lys445Arg
ENST00000355773.5:c.1334A>G	ENSP00000348019.5:p.Lys445Arg
NM_012434.4:c.1334A>G	NP_036566.1:p.Lys445Arg
XM_005248710.2:c.1283A>G	XP_005248767.1:p.Lys428Arg
XM_005248711.1:c.1136A>G	XP_005248768.1:p.Lys379Arg
XM_011535750.1:c.1186A>G	XP_011534052.1:p.Lys396Glu
NM_012434.5:c.1334A>G MANE Select	NP_036566.1:p.Lys445Arg
NM_001382629.1:c.1103A>G	NP_001369558.1:p.Lys368Arg
NM_001382630.1:c.1260-5153A>G	NP_001369559.1:n.1260-5153A>G
NM_001382631.1:c.1355A>G	NP_001369560.1:p.Lys452Arg
NM_001382632.1:c.1247A>G	NP_001369561.1:p.Lys416Arg
NM_001382633.1:c.1334A>G	NP_001369562.1:p.Lys445Arg
NM_001382634.1:c.1175A>G	NP_001369563.1:p.Lys392Arg
NM_001382635.1:c.1331A>G	NP_001369564.1:p.Lys444Arg
NM_001382636.1:c.1016A>G	NP_001369565.1:p.Lys339Arg