Canonical Allele Identifier: CA236266
Gene: SLC17A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 191213
dbSNP Id: rs142553916

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73621883G>A , CM000668.2:g.73621883G>A GRCh38
NC_000006.11:g.74331606G>A , CM000668.1:g.74331606G>A GRCh37
NC_000006.10:g.74388327G>A NCBI36
NG_008272.1:g.37132C>T

Transcript Alleles

HGVS Amino-acid change
NM_012434.4:c.899C>T VV NP_036566.1:p.Ser300Phe
XM_005248710.2:c.848C>T XP_005248767.1:p.Ser283Phe
XM_005248711.1:c.701C>T XP_005248768.1:p.Ser234Phe
XM_011535750.1:c.899C>T XP_011534052.1:p.Ser300Phe
NM_012434.5:c.899C>T VV MANE Preferred NP_036566.1:p.Ser300Phe
ENST00000355773.5:c.899C>T ENSP00000348019.5:p.Ser300Phe