Canonical Allele Identifier: CA450912536
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74310080G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600357G>C , CM000668.2:g.73600357G>C GRCh38
NC_000006.11:g.74310080G>C , CM000668.1:g.74310080G>C GRCh37
NC_000006.10:g.74366801G>C NCBI36
NG_008272.1:g.58658C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1344C>G MANE Select ENSP00000348019.5:p.Thr448=
ENST00000355773.5:c.1344C>G ENSP00000348019.5:p.Thr448=
NM_012434.4:c.1344C>G NP_036566.1:p.Thr448=
XM_005248710.2:c.1293C>G XP_005248767.1:p.Thr431=
XM_005248711.1:c.1146C>G XP_005248768.1:p.Thr382=
XM_011535750.1:c.*2C>G XP_011534052.1:n.*2C>G
NM_012434.5:c.1344C>G MANE Select NP_036566.1:p.Thr448=
NM_001382629.1:c.1113C>G NP_001369558.1:p.Thr371=
NM_001382630.1:c.1260-5143C>G NP_001369559.1:n.1260-5143C>G
NM_001382631.1:c.1365C>G NP_001369560.1:p.Thr455=
NM_001382632.1:c.1257C>G NP_001369561.1:p.Thr419=
NM_001382633.1:c.1344C>G NP_001369562.1:p.Thr448=
NM_001382634.1:c.1185C>G NP_001369563.1:p.Thr395=
NM_001382635.1:c.1341C>G NP_001369564.1:p.Thr447=
NM_001382636.1:c.1026C>G NP_001369565.1:p.Thr342=