Canonical Allele Identifier: CA1638225440
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73644401A= , CM000668.2:g.73644401A= GRCh38
NC_000006.11:g.74354124A= , CM000668.1:g.74354124A= GRCh37
NC_000006.10:g.74410845A= NCBI36
NG_008272.1:g.14614T=

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.291+6T= MANE Select ENSP00000348019.5:n.291+6T=
ENST00000355773.5:c.291+6T= ENSP00000348019.5:n.291+6T=
ENST00000481996.1:n.57+6T=
NM_012434.4:c.291+6T= NP_036566.1:n.291+6T=
XM_005248710.2:c.240+6T= XP_005248767.1:n.240+6T=
XM_005248711.1:c.93+6T= XP_005248768.1:n.93+6T=
XM_011535750.1:c.291+6T= XP_011534052.1:n.291+6T=
XM_011535751.1:c.291+6T= XP_011534053.1:n.291+6T=
NM_012434.5:c.291+6T= MANE Select NP_036566.1:n.291+6T=
NM_001382629.1:c.61-2477T= NP_001369558.1:n.61-2477T=
NM_001382630.1:c.291+6T= NP_001369559.1:n.291+6T=
NM_001382631.1:c.312+6T= NP_001369560.1:n.312+6T=
NM_001382632.1:c.291+6T= NP_001369561.1:n.291+6T=
NM_001382633.1:c.291+6T= NP_001369562.1:n.291+6T=
NM_001382634.1:c.291+6T= NP_001369563.1:n.291+6T=
NM_001382635.1:c.291+6T= NP_001369564.1:n.291+6T=
NM_001382636.1:c.61-2477T= NP_001369565.1:n.61-2477T=