Canonical Allele Identifier: CA450910895
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74331608A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73621885A>G , CM000668.2:g.73621885A>G GRCh38
NC_000006.11:g.74331608A>G , CM000668.1:g.74331608A>G GRCh37
NC_000006.10:g.74388329A>G NCBI36
NG_008272.1:g.37130T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.897T>C MANE Select ENSP00000348019.5:p.Phe299=
ENST00000355773.5:c.897T>C ENSP00000348019.5:p.Phe299=
NM_012434.4:c.897T>C NP_036566.1:p.Phe299=
XM_005248710.2:c.846T>C XP_005248767.1:p.Phe282=
XM_005248711.1:c.699T>C XP_005248768.1:p.Phe233=
XM_011535750.1:c.897T>C XP_011534052.1:p.Phe299=
NM_012434.5:c.897T>C MANE Select NP_036566.1:p.Phe299=
NM_001382629.1:c.666T>C NP_001369558.1:p.Phe222=
NM_001382630.1:c.897T>C NP_001369559.1:p.Phe299=
NM_001382631.1:c.918T>C NP_001369560.1:p.Phe306=
NM_001382632.1:c.810T>C NP_001369561.1:p.Phe270=
NM_001382633.1:c.897T>C NP_001369562.1:p.Phe299=
NM_001382634.1:c.820-6438T>C NP_001369563.1:n.820-6438T>C
NM_001382635.1:c.894T>C NP_001369564.1:p.Phe298=
NM_001382636.1:c.579T>C NP_001369565.1:p.Phe193=