Canonical Allele Identifier: CA155210

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 130316
• ClinVar RCV Id: RCV000118354 ; RCV000297962 ; RCV000590335 ; RCV001095271
• dbSNP Id: rs472294
• ExAC: 6:74354175 C / T
• gnomAD v2: 6-74354175-C-T
• gnomAD v3: 6-73644452-C-T
• gnomAD v4: 6-73644452-C-T
• MyVariant Identifiers: chr6:g.74354175C>T (hg19) ; chr6:g.73644452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644452C>T , CM000668.2:g.73644452C>T	GRCh38
NC_000006.11:g.74354175C>T , CM000668.1:g.74354175C>T	GRCh37
NC_000006.10:g.74410896C>T	NCBI36
NG_008272.1:g.14563G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.246G>A MANE Select	ENSP00000348019.5:p.Ala82=
ENST00000355773.5:c.246G>A	ENSP00000348019.5:p.Ala82=
ENST00000481996.1:n.12G>A
NM_012434.4:c.246G>A	NP_036566.1:p.Ala82=
XM_005248710.2:c.195G>A	XP_005248767.1:p.Ala65=
XM_005248711.1:c.48G>A	XP_005248768.1:p.Ala16=
XM_011535750.1:c.246G>A	XP_011534052.1:p.Ala82=
XM_011535751.1:c.246G>A	XP_011534053.1:p.Ala82=
NM_012434.5:c.246G>A MANE Select	NP_036566.1:p.Ala82=
NM_001382629.1:c.61-2528G>A	NP_001369558.1:n.61-2528G>A
NM_001382630.1:c.246G>A	NP_001369559.1:p.Ala82=
NM_001382631.1:c.267G>A	NP_001369560.1:p.Ala89=
NM_001382632.1:c.246G>A	NP_001369561.1:p.Ala82=
NM_001382633.1:c.246G>A	NP_001369562.1:p.Ala82=
NM_001382634.1:c.246G>A	NP_001369563.1:p.Ala82=
NM_001382635.1:c.246G>A	NP_001369564.1:p.Ala82=
NM_001382636.1:c.61-2528G>A	NP_001369565.1:n.61-2528G>A