Canonical Allele Identifier: CA364720006

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310115C>G (hg19) ; chr6:g.73600392C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600392C>G , CM000668.2:g.73600392C>G	GRCh38
NC_000006.11:g.74310115C>G , CM000668.1:g.74310115C>G	GRCh37
NC_000006.10:g.74366836C>G	NCBI36
NG_008272.1:g.58623G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1309G>C MANE Select	ENSP00000348019.5:p.Gly437Arg
ENST00000355773.5:c.1309G>C	ENSP00000348019.5:p.Gly437Arg
NM_012434.4:c.1309G>C	NP_036566.1:p.Gly437Arg
XM_005248710.2:c.1258G>C	XP_005248767.1:p.Gly420Arg
XM_005248711.1:c.1111G>C	XP_005248768.1:p.Gly371Arg
XM_011535750.1:c.1161G>C	XP_011534052.1:p.Gln387His
NM_012434.5:c.1309G>C MANE Select	NP_036566.1:p.Gly437Arg
NM_001382629.1:c.1078G>C	NP_001369558.1:p.Gly360Arg
NM_001382630.1:c.1260-5178G>C	NP_001369559.1:n.1260-5178G>C
NM_001382631.1:c.1330G>C	NP_001369560.1:p.Gly444Arg
NM_001382632.1:c.1222G>C	NP_001369561.1:p.Gly408Arg
NM_001382633.1:c.1309G>C	NP_001369562.1:p.Gly437Arg
NM_001382634.1:c.1150G>C	NP_001369563.1:p.Gly384Arg
NM_001382635.1:c.1306G>C	NP_001369564.1:p.Gly436Arg
NM_001382636.1:c.991G>C	NP_001369565.1:p.Gly331Arg