Canonical Allele Identifier: CA3890290

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 235209
• ClinVar RCV Id: RCV000224654 ; RCV000327513 ; RCV001083032 ; RCV001164158 ; RCV003937869
• dbSNP Id: rs74360232
• ExAC: 6:74310100 C / T
• gnomAD v2: 6-74310100-C-T
• gnomAD v3: 6-73600377-C-T
• gnomAD v4: 6-73600377-C-T
• MyVariant Identifiers: chr6:g.74310100C>T (hg19) ; chr6:g.73600377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600377C>T , CM000668.2:g.73600377C>T	GRCh38
NC_000006.11:g.74310100C>T , CM000668.1:g.74310100C>T	GRCh37
NC_000006.10:g.74366821C>T	NCBI36
NG_008272.1:g.58638G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1324G>A MANE Select	ENSP00000348019.5:p.Val442Ile
ENST00000355773.5:c.1324G>A	ENSP00000348019.5:p.Val442Ile
NM_012434.4:c.1324G>A	NP_036566.1:p.Val442Ile
XM_005248710.2:c.1273G>A	XP_005248767.1:p.Val425Ile
XM_005248711.1:c.1126G>A	XP_005248768.1:p.Val376Ile
XM_011535750.1:c.1176G>A	XP_011534052.1:p.Pro392=
NM_012434.5:c.1324G>A MANE Select	NP_036566.1:p.Val442Ile
NM_001382629.1:c.1093G>A	NP_001369558.1:p.Val365Ile
NM_001382630.1:c.1260-5163G>A	NP_001369559.1:n.1260-5163G>A
NM_001382631.1:c.1345G>A	NP_001369560.1:p.Val449Ile
NM_001382632.1:c.1237G>A	NP_001369561.1:p.Val413Ile
NM_001382633.1:c.1324G>A	NP_001369562.1:p.Val442Ile
NM_001382634.1:c.1165G>A	NP_001369563.1:p.Val389Ile
NM_001382635.1:c.1321G>A	NP_001369564.1:p.Val441Ile
NM_001382636.1:c.1006G>A	NP_001369565.1:p.Val336Ile