Canonical Allele Identifier: CA2695198289

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2678769
• ClinVar RCV Id: RCV003472760

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644411dup , CM000668.2:g.73644411dup	GRCh38
NC_000006.11:g.74354134dup , CM000668.1:g.74354134dup	GRCh37
NC_000006.10:g.74410855dup	NCBI36
NG_008272.1:g.14606dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.289dup MANE Select	ENSP00000348019.5:p.Thr97AsnfsTer3
ENST00000355773.5:c.289dup	ENSP00000348019.5:p.Thr97AsnfsTer3
ENST00000481996.1:n.55dup
NM_012434.4:c.289dup	NP_036566.1:p.Thr97AsnfsTer3
XM_005248710.2:c.238dup	XP_005248767.1:p.Thr80AsnfsTer3
XM_005248711.1:c.91dup	XP_005248768.1:p.Thr31AsnfsTer3
XM_011535750.1:c.289dup	XP_011534052.1:p.Thr97AsnfsTer3
XM_011535751.1:c.289dup	XP_011534053.1:p.Thr97AsnfsTer3
NM_012434.5:c.289dup MANE Select	NP_036566.1:p.Thr97AsnfsTer3
NM_001382629.1:c.61-2485dup	NP_001369558.1:n.61-2485dup
NM_001382630.1:c.289dup	NP_001369559.1:p.Thr97AsnfsTer3
NM_001382631.1:c.310dup	NP_001369560.1:p.Thr104AsnfsTer3
NM_001382632.1:c.289dup	NP_001369561.1:p.Thr97AsnfsTer3
NM_001382633.1:c.289dup	NP_001369562.1:p.Thr97AsnfsTer3
NM_001382634.1:c.289dup	NP_001369563.1:p.Thr97AsnfsTer3
NM_001382635.1:c.289dup	NP_001369564.1:p.Thr97AsnfsTer3
NM_001382636.1:c.61-2485dup	NP_001369565.1:n.61-2485dup