Canonical Allele Identifier: CA3890299

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 863775
• ClinVar RCV Id: RCV001070825
• dbSNP Id: rs775750187
• ExAC: 6:74310163 A / T
• gnomAD v2: 6-74310163-A-T
• gnomAD v3: 6-73600440-A-T
• gnomAD v4: 6-73600440-A-T
• MyVariant Identifiers: chr6:g.74310163A>T (hg19) ; chr6:g.73600440A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1261T>A MANE Select	ENSP00000348019.5:p.Tyr421Asn
ENST00000355773.5:c.1261T>A	ENSP00000348019.5:p.Tyr421Asn
NM_012434.4:c.1261T>A	NP_036566.1:p.Tyr421Asn
XM_005248710.2:c.1210T>A	XP_005248767.1:p.Tyr404Asn
XM_005248711.1:c.1063T>A	XP_005248768.1:p.Tyr355Asn
XM_011535750.1:c.1113T>A	XP_011534052.1:p.Gly371=
NM_012434.5:c.1261T>A MANE Select	NP_036566.1:p.Tyr421Asn
NM_001382629.1:c.1030T>A	NP_001369558.1:p.Tyr344Asn
NM_001382630.1:c.1260-5226T>A	NP_001369559.1:n.1260-5226T>A
NM_001382631.1:c.1282T>A	NP_001369560.1:p.Tyr428Asn
NM_001382632.1:c.1174T>A	NP_001369561.1:p.Tyr392Asn
NM_001382633.1:c.1261T>A	NP_001369562.1:p.Tyr421Asn
NM_001382634.1:c.1102T>A	NP_001369563.1:p.Tyr368Asn
NM_001382635.1:c.1258T>A	NP_001369564.1:p.Tyr420Asn
NM_001382636.1:c.943T>A	NP_001369565.1:p.Tyr315Asn