Canonical Allele Identifier: CA3890286

Gene: SLC17A5

Linked Data

• dbSNP Id: rs932945242
• ExAC: 6:74310082 T / C
• gnomAD v2: 6-74310082-T-C
• gnomAD v3: 6-73600359-T-C
• gnomAD v4: 6-73600359-T-C
• COSMIC: COSM3782100
• MyVariant Identifiers: chr6:g.74310082T>C (hg19) ; chr6:g.74310082_74310083delinsCC (hg19) ; chr6:g.73600359T>C (hg38) ; chr6:g.73600359_73600360delinsCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600359T>C , CM000668.2:g.73600359T>C	GRCh38
NC_000006.11:g.74310082T>C , CM000668.1:g.74310082T>C	GRCh37
NC_000006.10:g.74366803T>C	NCBI36
NG_008272.1:g.58656A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1342A>G MANE Select	ENSP00000348019.5:p.Thr448Ala
ENST00000355773.5:c.1342A>G	ENSP00000348019.5:p.Thr448Ala
NM_012434.4:c.1342A>G	NP_036566.1:p.Thr448Ala
XM_005248710.2:c.1291A>G	XP_005248767.1:p.Thr431Ala
XM_005248711.1:c.1144A>G	XP_005248768.1:p.Thr382Ala
XM_011535750.1:c.1194A>G	XP_011534052.1:p.Ter398Trp
NM_012434.5:c.1342A>G MANE Select	NP_036566.1:p.Thr448Ala
NM_001382629.1:c.1111A>G	NP_001369558.1:p.Thr371Ala
NM_001382630.1:c.1260-5145A>G	NP_001369559.1:n.1260-5145A>G
NM_001382631.1:c.1363A>G	NP_001369560.1:p.Thr455Ala
NM_001382632.1:c.1255A>G	NP_001369561.1:p.Thr419Ala
NM_001382633.1:c.1342A>G	NP_001369562.1:p.Thr448Ala
NM_001382634.1:c.1183A>G	NP_001369563.1:p.Thr395Ala
NM_001382635.1:c.1339A>G	NP_001369564.1:p.Thr447Ala
NM_001382636.1:c.1024A>G	NP_001369565.1:p.Thr342Ala