Canonical Allele Identifier: CA450910899
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74331614T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73621891T>G , CM000668.2:g.73621891T>G GRCh38
NC_000006.11:g.74331614T>G , CM000668.1:g.74331614T>G GRCh37
NC_000006.10:g.74388335T>G NCBI36
NG_008272.1:g.37124A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.891A>C MANE Select ENSP00000348019.5:p.Ala297=
ENST00000355773.5:c.891A>C ENSP00000348019.5:p.Ala297=
NM_012434.4:c.891A>C NP_036566.1:p.Ala297=
XM_005248710.2:c.840A>C XP_005248767.1:p.Ala280=
XM_005248711.1:c.693A>C XP_005248768.1:p.Ala231=
XM_011535750.1:c.891A>C XP_011534052.1:p.Ala297=
NM_012434.5:c.891A>C MANE Select NP_036566.1:p.Ala297=
NM_001382629.1:c.660A>C NP_001369558.1:p.Ala220=
NM_001382630.1:c.891A>C NP_001369559.1:p.Ala297=
NM_001382631.1:c.912A>C NP_001369560.1:p.Ala304=
NM_001382632.1:c.804A>C NP_001369561.1:p.Ala268=
NM_001382633.1:c.891A>C NP_001369562.1:p.Ala297=
NM_001382634.1:c.820-6444A>C NP_001369563.1:n.820-6444A>C
NM_001382635.1:c.888A>C NP_001369564.1:p.Ala296=
NM_001382636.1:c.573A>C NP_001369565.1:p.Ala191=