Canonical Allele Identifier: CA450912564
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74310089T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600366T>C , CM000668.2:g.73600366T>C GRCh38
NC_000006.11:g.74310089T>C , CM000668.1:g.74310089T>C GRCh37
NC_000006.10:g.74366810T>C NCBI36
NG_008272.1:g.58649A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1335A>G MANE Select ENSP00000348019.5:p.Lys445=
ENST00000355773.5:c.1335A>G ENSP00000348019.5:p.Lys445=
NM_012434.4:c.1335A>G NP_036566.1:p.Lys445=
XM_005248710.2:c.1284A>G XP_005248767.1:p.Lys428=
XM_005248711.1:c.1137A>G XP_005248768.1:p.Lys379=
XM_011535750.1:c.1187A>G XP_011534052.1:p.Lys396Arg
NM_012434.5:c.1335A>G MANE Select NP_036566.1:p.Lys445=
NM_001382629.1:c.1104A>G NP_001369558.1:p.Lys368=
NM_001382630.1:c.1260-5152A>G NP_001369559.1:n.1260-5152A>G
NM_001382631.1:c.1356A>G NP_001369560.1:p.Lys452=
NM_001382632.1:c.1248A>G NP_001369561.1:p.Lys416=
NM_001382633.1:c.1335A>G NP_001369562.1:p.Lys445=
NM_001382634.1:c.1176A>G NP_001369563.1:p.Lys392=
NM_001382635.1:c.1332A>G NP_001369564.1:p.Lys444=
NM_001382636.1:c.1017A>G NP_001369565.1:p.Lys339=