Canonical Allele Identifier: CA3890288

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1437480
• ClinVar RCV Id: RCV001962841
• dbSNP Id: rs751011039
• ExAC: 6:74310091 T / C
• gnomAD v2: 6-74310091-T-C
• gnomAD v4: 6-73600368-T-C
• MyVariant Identifiers: chr6:g.74310091T>C (hg19) ; chr6:g.73600368T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600368T>C , CM000668.2:g.73600368T>C	GRCh38
NC_000006.11:g.74310091T>C , CM000668.1:g.74310091T>C	GRCh37
NC_000006.10:g.74366812T>C	NCBI36
NG_008272.1:g.58647A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1333A>G MANE Select	ENSP00000348019.5:p.Lys445Glu
ENST00000355773.5:c.1333A>G	ENSP00000348019.5:p.Lys445Glu
NM_012434.4:c.1333A>G	NP_036566.1:p.Lys445Glu
XM_005248710.2:c.1282A>G	XP_005248767.1:p.Lys428Glu
XM_005248711.1:c.1135A>G	XP_005248768.1:p.Lys379Glu
XM_011535750.1:c.1185A>G	XP_011534052.1:p.Leu395=
NM_012434.5:c.1333A>G MANE Select	NP_036566.1:p.Lys445Glu
NM_001382629.1:c.1102A>G	NP_001369558.1:p.Lys368Glu
NM_001382630.1:c.1260-5154A>G	NP_001369559.1:n.1260-5154A>G
NM_001382631.1:c.1354A>G	NP_001369560.1:p.Lys452Glu
NM_001382632.1:c.1246A>G	NP_001369561.1:p.Lys416Glu
NM_001382633.1:c.1333A>G	NP_001369562.1:p.Lys445Glu
NM_001382634.1:c.1174A>G	NP_001369563.1:p.Lys392Glu
NM_001382635.1:c.1330A>G	NP_001369564.1:p.Lys444Glu
NM_001382636.1:c.1015A>G	NP_001369565.1:p.Lys339Glu