Canonical Allele Identifier: CA450912571
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74310092A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600369A>C , CM000668.2:g.73600369A>C GRCh38
NC_000006.11:g.74310092A>C , CM000668.1:g.74310092A>C GRCh37
NC_000006.10:g.74366813A>C NCBI36
NG_008272.1:g.58646T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1332T>G MANE Select ENSP00000348019.5:p.Ala444=
ENST00000355773.5:c.1332T>G ENSP00000348019.5:p.Ala444=
NM_012434.4:c.1332T>G NP_036566.1:p.Ala444=
XM_005248710.2:c.1281T>G XP_005248767.1:p.Ala427=
XM_005248711.1:c.1134T>G XP_005248768.1:p.Ala378=
XM_011535750.1:c.1184T>G XP_011534052.1:p.Leu395Arg
NM_012434.5:c.1332T>G MANE Select NP_036566.1:p.Ala444=
NM_001382629.1:c.1101T>G NP_001369558.1:p.Ala367=
NM_001382630.1:c.1260-5155T>G NP_001369559.1:n.1260-5155T>G
NM_001382631.1:c.1353T>G NP_001369560.1:p.Ala451=
NM_001382632.1:c.1245T>G NP_001369561.1:p.Ala415=
NM_001382633.1:c.1332T>G NP_001369562.1:p.Ala444=
NM_001382634.1:c.1173T>G NP_001369563.1:p.Ala391=
NM_001382635.1:c.1329T>G NP_001369564.1:p.Ala443=
NM_001382636.1:c.1014T>G NP_001369565.1:p.Ala338=