Canonical Allele Identifier: CA1638223667
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600229T= , CM000668.2:g.73600229T= GRCh38
NC_000006.11:g.74309952T= , CM000668.1:g.74309952T= GRCh37
NC_000006.10:g.74366673T= NCBI36
NG_008272.1:g.58786A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1350+122A= MANE Select ENSP00000348019.5:n.1350+122A=
ENST00000355773.5:c.1350+122A= ENSP00000348019.5:n.1350+122A=
NM_012434.4:c.1350+122A= NP_036566.1:n.1350+122A=
XM_005248710.2:c.1299+122A= XP_005248767.1:n.1299+122A=
XM_005248711.1:c.1152+122A= XP_005248768.1:n.1152+122A=
XM_011535750.1:c.*8+122A= XP_011534052.1:n.*8+122A=
NM_012434.5:c.1350+122A= MANE Select NP_036566.1:n.1350+122A=
NM_001382629.1:c.1119+122A= NP_001369558.1:n.1119+122A=
NM_001382630.1:c.1260-5015A= NP_001369559.1:n.1260-5015A=
NM_001382631.1:c.1371+122A= NP_001369560.1:n.1371+122A=
NM_001382632.1:c.1263+122A= NP_001369561.1:n.1263+122A=
NM_001382633.1:c.1350+122A= NP_001369562.1:n.1350+122A=
NM_001382634.1:c.1191+122A= NP_001369563.1:n.1191+122A=
NM_001382635.1:c.1347+122A= NP_001369564.1:n.1347+122A=
NM_001382636.1:c.1032+122A= NP_001369565.1:n.1032+122A=