Canonical Allele Identifier: CA140977858

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1931561
• ClinVar RCV Id: RCV002605553
• dbSNP Id: rs891185945
• gnomAD v4: 6-73644432-G-T
• MyVariant Identifiers: chr6:g.74354155G>T (hg19) ; chr6:g.73644432G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644432G>T , CM000668.2:g.73644432G>T	GRCh38
NC_000006.11:g.74354155G>T , CM000668.1:g.74354155G>T	GRCh37
NC_000006.10:g.74410876G>T	NCBI36
NG_008272.1:g.14583C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.266C>A MANE Select	ENSP00000348019.5:p.Pro89His
ENST00000355773.5:c.266C>A	ENSP00000348019.5:p.Pro89His
ENST00000481996.1:n.32C>A
NM_012434.4:c.266C>A	NP_036566.1:p.Pro89His
XM_005248710.2:c.215C>A	XP_005248767.1:p.Pro72His
XM_005248711.1:c.68C>A	XP_005248768.1:p.Pro23His
XM_011535750.1:c.266C>A	XP_011534052.1:p.Pro89His
XM_011535751.1:c.266C>A	XP_011534053.1:p.Pro89His
NM_012434.5:c.266C>A MANE Select	NP_036566.1:p.Pro89His
NM_001382629.1:c.61-2508C>A	NP_001369558.1:n.61-2508C>A
NM_001382630.1:c.266C>A	NP_001369559.1:p.Pro89His
NM_001382631.1:c.287C>A	NP_001369560.1:p.Pro96His
NM_001382632.1:c.266C>A	NP_001369561.1:p.Pro89His
NM_001382633.1:c.266C>A	NP_001369562.1:p.Pro89His
NM_001382634.1:c.266C>A	NP_001369563.1:p.Pro89His
NM_001382635.1:c.266C>A	NP_001369564.1:p.Pro89His
NM_001382636.1:c.61-2508C>A	NP_001369565.1:n.61-2508C>A