Canonical Allele Identifier: CA1638223767
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600311T= , CM000668.2:g.73600311T= GRCh38
NC_000006.11:g.74310034T= , CM000668.1:g.74310034T= GRCh37
NC_000006.10:g.74366755T= NCBI36
NG_008272.1:g.58704A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1350+40A= MANE Select ENSP00000348019.5:n.1350+40A=
ENST00000355773.5:c.1350+40A= ENSP00000348019.5:n.1350+40A=
NM_012434.4:c.1350+40A= NP_036566.1:n.1350+40A=
XM_005248710.2:c.1299+40A= XP_005248767.1:n.1299+40A=
XM_005248711.1:c.1152+40A= XP_005248768.1:n.1152+40A=
XM_011535750.1:c.*8+40A= XP_011534052.1:n.*8+40A=
NM_012434.5:c.1350+40A= MANE Select NP_036566.1:n.1350+40A=
NM_001382629.1:c.1119+40A= NP_001369558.1:n.1119+40A=
NM_001382630.1:c.1260-5097A= NP_001369559.1:n.1260-5097A=
NM_001382631.1:c.1371+40A= NP_001369560.1:n.1371+40A=
NM_001382632.1:c.1263+40A= NP_001369561.1:n.1263+40A=
NM_001382633.1:c.1350+40A= NP_001369562.1:n.1350+40A=
NM_001382634.1:c.1191+40A= NP_001369563.1:n.1191+40A=
NM_001382635.1:c.1347+40A= NP_001369564.1:n.1347+40A=
NM_001382636.1:c.1032+40A= NP_001369565.1:n.1032+40A=