Canonical Allele Identifier: CA364719958

Gene: SLC17A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1334A>C MANE Select	ENSP00000348019.5:p.Lys445Thr
ENST00000355773.5:c.1334A>C	ENSP00000348019.5:p.Lys445Thr
NM_012434.4:c.1334A>C	NP_036566.1:p.Lys445Thr
XM_005248710.2:c.1283A>C	XP_005248767.1:p.Lys428Thr
XM_005248711.1:c.1136A>C	XP_005248768.1:p.Lys379Thr
XM_011535750.1:c.1186A>C	XP_011534052.1:p.Lys396Gln
NM_012434.5:c.1334A>C MANE Select	NP_036566.1:p.Lys445Thr
NM_001382629.1:c.1103A>C	NP_001369558.1:p.Lys368Thr
NM_001382630.1:c.1260-5153A>C	NP_001369559.1:n.1260-5153A>C
NM_001382631.1:c.1355A>C	NP_001369560.1:p.Lys452Thr
NM_001382632.1:c.1247A>C	NP_001369561.1:p.Lys416Thr
NM_001382633.1:c.1334A>C	NP_001369562.1:p.Lys445Thr
NM_001382634.1:c.1175A>C	NP_001369563.1:p.Lys392Thr
NM_001382635.1:c.1331A>C	NP_001369564.1:p.Lys444Thr
NM_001382636.1:c.1016A>C	NP_001369565.1:p.Lys339Thr