Canonical Allele Identifier: CA450912366
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74354202A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73644479A>G , CM000668.2:g.73644479A>G GRCh38
NC_000006.11:g.74354202A>G , CM000668.1:g.74354202A>G GRCh37
NC_000006.10:g.74410923A>G NCBI36
NG_008272.1:g.14536T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.219T>C MANE Select ENSP00000348019.5:p.Thr73=
ENST00000355773.5:c.219T>C ENSP00000348019.5:p.Thr73=
NM_012434.4:c.219T>C NP_036566.1:p.Thr73=
XM_005248710.2:c.168T>C XP_005248767.1:p.Thr56=
XM_005248711.1:c.21T>C XP_005248768.1:p.Thr7=
XM_011535750.1:c.219T>C XP_011534052.1:p.Thr73=
XM_011535751.1:c.219T>C XP_011534053.1:p.Thr73=
NM_012434.5:c.219T>C MANE Select NP_036566.1:p.Thr73=
NM_001382629.1:c.61-2555T>C NP_001369558.1:n.61-2555T>C
NM_001382630.1:c.219T>C NP_001369559.1:p.Thr73=
NM_001382631.1:c.240T>C NP_001369560.1:p.Thr80=
NM_001382632.1:c.219T>C NP_001369561.1:p.Thr73=
NM_001382633.1:c.219T>C NP_001369562.1:p.Thr73=
NM_001382634.1:c.219T>C NP_001369563.1:p.Thr73=
NM_001382635.1:c.219T>C NP_001369564.1:p.Thr73=
NM_001382636.1:c.61-2555T>C NP_001369565.1:n.61-2555T>C