Canonical Allele Identifier: CA364713543
Gene: SLC17A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73621886A>G , CM000668.2:g.73621886A>G GRCh38
NC_000006.11:g.74331609A>G , CM000668.1:g.74331609A>G GRCh37
NC_000006.10:g.74388330A>G NCBI36
NG_008272.1:g.37129T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.896T>C MANE Select ENSP00000348019.5:p.Phe299Ser
ENST00000355773.5:c.896T>C ENSP00000348019.5:p.Phe299Ser
NM_012434.4:c.896T>C NP_036566.1:p.Phe299Ser
XM_005248710.2:c.845T>C XP_005248767.1:p.Phe282Ser
XM_005248711.1:c.698T>C XP_005248768.1:p.Phe233Ser
XM_011535750.1:c.896T>C XP_011534052.1:p.Phe299Ser
NM_012434.5:c.896T>C MANE Select NP_036566.1:p.Phe299Ser
NM_001382629.1:c.665T>C NP_001369558.1:p.Phe222Ser
NM_001382630.1:c.896T>C NP_001369559.1:p.Phe299Ser
NM_001382631.1:c.917T>C NP_001369560.1:p.Phe306Ser
NM_001382632.1:c.809T>C NP_001369561.1:p.Phe270Ser
NM_001382633.1:c.896T>C NP_001369562.1:p.Phe299Ser
NM_001382634.1:c.820-6439T>C NP_001369563.1:n.820-6439T>C
NM_001382635.1:c.893T>C NP_001369564.1:p.Phe298Ser
NM_001382636.1:c.578T>C NP_001369565.1:p.Phe193Ser