Canonical Allele Identifier: CA364719334

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1911556
• ClinVar RCV Id: RCV002578615
• dbSNP Id: rs1346438531
• gnomAD v2: 6-74354291-T-C
• gnomAD v4: 6-73644568-T-C
• MyVariant Identifiers: chr6:g.74354291T>C (hg19) ; chr6:g.73644568T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644568T>C , CM000668.2:g.73644568T>C	GRCh38
NC_000006.11:g.74354291T>C , CM000668.1:g.74354291T>C	GRCh37
NC_000006.10:g.74411012T>C	NCBI36
NG_008272.1:g.14447A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.130A>G MANE Select	ENSP00000348019.5:p.Ile44Val
ENST00000355773.5:c.130A>G	ENSP00000348019.5:p.Ile44Val
NM_012434.4:c.130A>G	NP_036566.1:p.Ile44Val
XM_005248710.2:c.79A>G	XP_005248767.1:p.Ile27Val
XM_005248711.1:c.-69A>G	XP_005248768.1:n.-69A>G
XM_011535750.1:c.130A>G	XP_011534052.1:p.Ile44Val
XM_011535751.1:c.130A>G	XP_011534053.1:p.Ile44Val
NM_012434.5:c.130A>G MANE Select	NP_036566.1:p.Ile44Val
NM_001382629.1:c.61-2644A>G	NP_001369558.1:n.61-2644A>G
NM_001382630.1:c.130A>G	NP_001369559.1:p.Ile44Val
NM_001382631.1:c.151A>G	NP_001369560.1:p.Ile51Val
NM_001382632.1:c.130A>G	NP_001369561.1:p.Ile44Val
NM_001382633.1:c.130A>G	NP_001369562.1:p.Ile44Val
NM_001382634.1:c.130A>G	NP_001369563.1:p.Ile44Val
NM_001382635.1:c.130A>G	NP_001369564.1:p.Ile44Val
NM_001382636.1:c.61-2644A>G	NP_001369565.1:n.61-2644A>G