Canonical Allele Identifier: CA1638220493

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2698513
• ClinVar RCV Id: RCV003505500
• dbSNP Id: rs1769129693
• gnomAD v4: 6-73638492-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73638493dup , CM000668.2:g.73638493dup	GRCh38
NC_000006.11:g.74348216dup , CM000668.1:g.74348216dup	GRCh37
NC_000006.10:g.74404937dup	NCBI36
NG_008272.1:g.20522dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.532dup MANE Select	ENSP00000348019.5:p.Thr178AsnfsTer17
ENST00000355773.5:c.532dup	ENSP00000348019.5:p.Thr178AsnfsTer17
ENST00000481996.1:n.298dup
NM_012434.4:c.532dup	NP_036566.1:p.Thr178AsnfsTer17
XM_005248710.2:c.481dup	XP_005248767.1:p.Thr161AsnfsTer17
XM_005248711.1:c.334dup	XP_005248768.1:p.Thr112AsnfsTer17
XM_011535750.1:c.532dup	XP_011534052.1:p.Thr178AsnfsTer17
XM_011535751.1:c.532dup	XP_011534053.1:p.Thr178AsnfsTer17
NM_012434.5:c.532dup MANE Select	NP_036566.1:p.Thr178AsnfsTer17
NM_001382629.1:c.301dup	NP_001369558.1:p.Thr101AsnfsTer17
NM_001382630.1:c.532dup	NP_001369559.1:p.Thr178AsnfsTer17
NM_001382631.1:c.553dup	NP_001369560.1:p.Thr185AsnfsTer17
NM_001382632.1:c.532dup	NP_001369561.1:p.Thr178AsnfsTer17
NM_001382633.1:c.532dup	NP_001369562.1:p.Thr178AsnfsTer17
NM_001382634.1:c.532dup	NP_001369563.1:p.Thr178AsnfsTer17
NM_001382635.1:c.532dup	NP_001369564.1:p.Thr178AsnfsTer17
NM_001382636.1:c.301dup	NP_001369565.1:p.Thr101AsnfsTer17