Canonical Allele Identifier: CA364718617
Gene: SLC17A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1482990
ClinVar RCV Id: RCV002025320
dbSNP Id: rs2150120727
gnomAD v4: 6-73644423-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73644423A>G , CM000668.2:g.73644423A>G GRCh38
NC_000006.11:g.74354146A>G , CM000668.1:g.74354146A>G GRCh37
NC_000006.10:g.74410867A>G NCBI36
NG_008272.1:g.14592T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.275T>C MANE Select ENSP00000348019.5:p.Val92Ala
ENST00000355773.5:c.275T>C ENSP00000348019.5:p.Val92Ala
ENST00000481996.1:n.41T>C
NM_012434.4:c.275T>C NP_036566.1:p.Val92Ala
XM_005248710.2:c.224T>C XP_005248767.1:p.Val75Ala
XM_005248711.1:c.77T>C XP_005248768.1:p.Val26Ala
XM_011535750.1:c.275T>C XP_011534052.1:p.Val92Ala
XM_011535751.1:c.275T>C XP_011534053.1:p.Val92Ala
NM_012434.5:c.275T>C MANE Select NP_036566.1:p.Val92Ala
NM_001382629.1:c.61-2499T>C NP_001369558.1:n.61-2499T>C
NM_001382630.1:c.275T>C NP_001369559.1:p.Val92Ala
NM_001382631.1:c.296T>C NP_001369560.1:p.Val99Ala
NM_001382632.1:c.275T>C NP_001369561.1:p.Val92Ala
NM_001382633.1:c.275T>C NP_001369562.1:p.Val92Ala
NM_001382634.1:c.275T>C NP_001369563.1:p.Val92Ala
NM_001382635.1:c.275T>C NP_001369564.1:p.Val92Ala
NM_001382636.1:c.61-2499T>C NP_001369565.1:n.61-2499T>C