Canonical Allele Identifier: CA450912629
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74310113T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600390T>G , CM000668.2:g.73600390T>G GRCh38
NC_000006.11:g.74310113T>G , CM000668.1:g.74310113T>G GRCh37
NC_000006.10:g.74366834T>G NCBI36
NG_008272.1:g.58625A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1311A>C MANE Select ENSP00000348019.5:p.Gly437=
ENST00000355773.5:c.1311A>C ENSP00000348019.5:p.Gly437=
NM_012434.4:c.1311A>C NP_036566.1:p.Gly437=
XM_005248710.2:c.1260A>C XP_005248767.1:p.Gly420=
XM_005248711.1:c.1113A>C XP_005248768.1:p.Gly371=
XM_011535750.1:c.1163A>C XP_011534052.1:p.Glu388Ala
NM_012434.5:c.1311A>C MANE Select NP_036566.1:p.Gly437=
NM_001382629.1:c.1080A>C NP_001369558.1:p.Gly360=
NM_001382630.1:c.1260-5176A>C NP_001369559.1:n.1260-5176A>C
NM_001382631.1:c.1332A>C NP_001369560.1:p.Gly444=
NM_001382632.1:c.1224A>C NP_001369561.1:p.Gly408=
NM_001382633.1:c.1311A>C NP_001369562.1:p.Gly437=
NM_001382634.1:c.1152A>C NP_001369563.1:p.Gly384=
NM_001382635.1:c.1308A>C NP_001369564.1:p.Gly436=
NM_001382636.1:c.993A>C NP_001369565.1:p.Gly331=