Canonical Allele Identifier: CA3890296

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 809967
• ClinVar RCV Id: RCV000998646 ; RCV001159256 ; RCV001159255 ; RCV002497314 ; RCV002549098
• dbSNP Id: rs200632199
• ExAC: 6:74310129 A / G
• gnomAD v2: 6-74310129-A-G
• gnomAD v3: 6-73600406-A-G
• gnomAD v4: 6-73600406-A-G
• MyVariant Identifiers: chr6:g.74310129A>G (hg19) ; chr6:g.73600406A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600406A>G , CM000668.2:g.73600406A>G	GRCh38
NC_000006.11:g.74310129A>G , CM000668.1:g.74310129A>G	GRCh37
NC_000006.10:g.74366850A>G	NCBI36
NG_008272.1:g.58609T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1295T>C MANE Select	ENSP00000348019.5:p.Phe432Ser
ENST00000355773.5:c.1295T>C	ENSP00000348019.5:p.Phe432Ser
NM_012434.4:c.1295T>C	NP_036566.1:p.Phe432Ser
XM_005248710.2:c.1244T>C	XP_005248767.1:p.Phe415Ser
XM_005248711.1:c.1097T>C	XP_005248768.1:p.Phe366Ser
XM_011535750.1:c.1147T>C	XP_011534052.1:p.Leu383=
NM_012434.5:c.1295T>C MANE Select	NP_036566.1:p.Phe432Ser
NM_001382629.1:c.1064T>C	NP_001369558.1:p.Phe355Ser
NM_001382630.1:c.1260-5192T>C	NP_001369559.1:n.1260-5192T>C
NM_001382631.1:c.1316T>C	NP_001369560.1:p.Phe439Ser
NM_001382632.1:c.1208T>C	NP_001369561.1:p.Phe403Ser
NM_001382633.1:c.1295T>C	NP_001369562.1:p.Phe432Ser
NM_001382634.1:c.1136T>C	NP_001369563.1:p.Phe379Ser
NM_001382635.1:c.1292T>C	NP_001369564.1:p.Phe431Ser
NM_001382636.1:c.977T>C	NP_001369565.1:p.Phe326Ser