Canonical Allele Identifier: CA16041081

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 370579
• ClinVar RCV Id: RCV000409832
• dbSNP Id: rs1057516601
• MyVariant Identifiers: chr6:g.74331596C>T (hg19) ; chr6:g.73621873C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621873C>T , CM000668.2:g.73621873C>T	GRCh38
NC_000006.11:g.74331596C>T , CM000668.1:g.74331596C>T	GRCh37
NC_000006.10:g.74388317C>T	NCBI36
NG_008272.1:g.37142G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.909G>A MANE Select	ENSP00000348019.5:p.Trp303Ter
ENST00000355773.5:c.909G>A	ENSP00000348019.5:p.Trp303Ter
NM_012434.4:c.909G>A	NP_036566.1:p.Trp303Ter
XM_005248710.2:c.858G>A	XP_005248767.1:p.Trp286Ter
XM_005248711.1:c.711G>A	XP_005248768.1:p.Trp237Ter
XM_011535750.1:c.909G>A	XP_011534052.1:p.Trp303Ter
NM_012434.5:c.909G>A MANE Select	NP_036566.1:p.Trp303Ter
NM_001382629.1:c.678G>A	NP_001369558.1:p.Trp226Ter
NM_001382630.1:c.909G>A	NP_001369559.1:p.Trp303Ter
NM_001382631.1:c.930G>A	NP_001369560.1:p.Trp310Ter
NM_001382632.1:c.822G>A	NP_001369561.1:p.Trp274Ter
NM_001382633.1:c.909G>A	NP_001369562.1:p.Trp303Ter
NM_001382634.1:c.820-6426G>A	NP_001369563.1:n.820-6426G>A
NM_001382635.1:c.906G>A	NP_001369564.1:p.Trp302Ter
NM_001382636.1:c.591G>A	NP_001369565.1:p.Trp197Ter