Canonical Allele Identifier: CA450912732
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74310155A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600432A>G , CM000668.2:g.73600432A>G GRCh38
NC_000006.11:g.74310155A>G , CM000668.1:g.74310155A>G GRCh37
NC_000006.10:g.74366876A>G NCBI36
NG_008272.1:g.58583T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1269T>C MANE Select ENSP00000348019.5:p.Gly423=
ENST00000355773.5:c.1269T>C ENSP00000348019.5:p.Gly423=
NM_012434.4:c.1269T>C NP_036566.1:p.Gly423=
XM_005248710.2:c.1218T>C XP_005248767.1:p.Gly406=
XM_005248711.1:c.1071T>C XP_005248768.1:p.Gly357=
XM_011535750.1:c.1121T>C XP_011534052.1:p.Val374Ala
NM_012434.5:c.1269T>C MANE Select NP_036566.1:p.Gly423=
NM_001382629.1:c.1038T>C NP_001369558.1:p.Gly346=
NM_001382630.1:c.1260-5218T>C NP_001369559.1:n.1260-5218T>C
NM_001382631.1:c.1290T>C NP_001369560.1:p.Gly430=
NM_001382632.1:c.1182T>C NP_001369561.1:p.Gly394=
NM_001382633.1:c.1269T>C NP_001369562.1:p.Gly423=
NM_001382634.1:c.1110T>C NP_001369563.1:p.Gly370=
NM_001382635.1:c.1266T>C NP_001369564.1:p.Gly422=
NM_001382636.1:c.951T>C NP_001369565.1:p.Gly317=