Canonical Allele Identifier: CA3135552289
Community Standard Title: NM_012434.5(SLC17A5):c.693C= (p.Tyr231=)
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73636628G= , CM000668.2:g.73636628G= GRCh38
NC_000006.11:g.74346351G= , CM000668.1:g.74346351G= GRCh37
NC_000006.10:g.74403072G= NCBI36
NG_008272.1:g.22387C=

Transcript Alleles

HGVS Amino-acid Change
NM_012434.5:c.693C= MANE Select NP_036566.1:p.Tyr231=
ENST00000355773.6:c.693C= MANE Select ENSP00000348019.5:p.Tyr231=
NM_001382629.1:c.462C= NP_001369558.1:p.Tyr154=
NM_001382630.1:c.693C= NP_001369559.1:p.Tyr231=
NM_001382631.1:c.714C= NP_001369560.1:p.Tyr238=
NM_001382632.1:c.614-1128C= NP_001369561.1:n.614-1128C=
NM_001382633.1:c.693C= NP_001369562.1:p.Tyr231=
NM_001382634.1:c.693C= NP_001369563.1:p.Tyr231=
NM_001382635.1:c.690C= NP_001369564.1:p.Tyr230=
NM_001382636.1:c.383-1128C= NP_001369565.1:n.383-1128C=
NM_012434.4:c.693C= NP_036566.1:p.Tyr231=
ENST00000355773.5:c.693C= ENSP00000348019.5:p.Tyr231=
ENST00000481996.1:n.459C=
XM_005248710.2:c.642C= XP_005248767.1:p.Tyr214=
XM_005248711.1:c.495C= XP_005248768.1:p.Tyr165=
XM_011535750.1:c.693C= XP_011534052.1:p.Tyr231=
XM_011535751.1:c.693C= XP_011534053.1:p.Tyr231=