Canonical Allele Identifier: CA1638229787
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73610541A= , CM000668.2:g.73610541A= GRCh38
NC_000006.11:g.74320264A= , CM000668.1:g.74320264A= GRCh37
NC_000006.10:g.74376985A= NCBI36
NG_008272.1:g.48474T=

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.1118T= MANE Select ENSP00000348019.5:p.Ile373=
ENST00000355773.5:c.1118T= ENSP00000348019.5:p.Ile373=
NM_012434.4:c.1118T= NP_036566.1:p.Ile373=
XM_005248710.2:c.1067T= XP_005248767.1:p.Ile356=
XM_005248711.1:c.920T= XP_005248768.1:p.Ile307=
XM_011535750.1:c.1111+4774T= XP_011534052.1:n.1111+4774T=
NM_012434.5:c.1118T= MANE Select NP_036566.1:p.Ile373=
NM_001382629.1:c.887T= NP_001369558.1:p.Ile296=
NM_001382630.1:c.1118T= NP_001369559.1:p.Ile373=
NM_001382631.1:c.1139T= NP_001369560.1:p.Ile380=
NM_001382632.1:c.1031T= NP_001369561.1:p.Ile344=
NM_001382633.1:c.1118T= NP_001369562.1:p.Ile373=
NM_001382634.1:c.959T= NP_001369563.1:p.Ile320=
NM_001382635.1:c.1115T= NP_001369564.1:p.Ile372=
NM_001382636.1:c.800T= NP_001369565.1:p.Ile267=