Canonical Allele Identifier: CA2695198281

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2678777
• ClinVar RCV Id: RCV003472768

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73638416dup , CM000668.2:g.73638416dup	GRCh38
NC_000006.11:g.74348139dup , CM000668.1:g.74348139dup	GRCh37
NC_000006.10:g.74404860dup	NCBI36
NG_008272.1:g.20599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.609dup MANE Select	ENSP00000348019.5:p.Ala204CysfsTer?
ENST00000355773.5:c.609dup	ENSP00000348019.5:p.Ala204CysfsTer?
ENST00000481996.1:n.375dup
NM_012434.4:c.609dup	NP_036566.1:p.Ala204CysfsTer?
XM_005248710.2:c.558dup	XP_005248767.1:p.Ala187CysfsTer?
XM_005248711.1:c.411dup	XP_005248768.1:p.Ala138CysfsTer?
XM_011535750.1:c.609dup	XP_011534052.1:p.Ala204CysfsTer?
XM_011535751.1:c.609dup	XP_011534053.1:p.Ala204CysfsTer?
NM_012434.5:c.609dup MANE Select	NP_036566.1:p.Ala204CysfsTer?
NM_001382629.1:c.378dup	NP_001369558.1:p.Ala127CysfsTer?
NM_001382630.1:c.609dup	NP_001369559.1:p.Ala204CysfsTer?
NM_001382631.1:c.630dup	NP_001369560.1:p.Ala211CysfsTer?
NM_001382632.1:c.609dup	NP_001369561.1:p.Ala204CysfsTer17
NM_001382633.1:c.609dup	NP_001369562.1:p.Ala204CysfsTer?
NM_001382634.1:c.609dup	NP_001369563.1:p.Ala204CysfsTer?
NM_001382635.1:c.609dup	NP_001369564.1:p.Ala204CysfsTer?
NM_001382636.1:c.378dup	NP_001369565.1:p.Ala127CysfsTer17