Canonical Allele Identifier: CA450912020
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74348163T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73638440T>C , CM000668.2:g.73638440T>C GRCh38
NC_000006.11:g.74348163T>C , CM000668.1:g.74348163T>C GRCh37
NC_000006.10:g.74404884T>C NCBI36
NG_008272.1:g.20575A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.585A>G MANE Select ENSP00000348019.5:p.Arg195=
ENST00000355773.5:c.585A>G ENSP00000348019.5:p.Arg195=
ENST00000481996.1:n.351A>G
NM_012434.4:c.585A>G NP_036566.1:p.Arg195=
XM_005248710.2:c.534A>G XP_005248767.1:p.Arg178=
XM_005248711.1:c.387A>G XP_005248768.1:p.Arg129=
XM_011535750.1:c.585A>G XP_011534052.1:p.Arg195=
XM_011535751.1:c.585A>G XP_011534053.1:p.Arg195=
NM_012434.5:c.585A>G MANE Select NP_036566.1:p.Arg195=
NM_001382629.1:c.354A>G NP_001369558.1:p.Arg118=
NM_001382630.1:c.585A>G NP_001369559.1:p.Arg195=
NM_001382631.1:c.606A>G NP_001369560.1:p.Arg202=
NM_001382632.1:c.585A>G NP_001369561.1:p.Arg195=
NM_001382633.1:c.585A>G NP_001369562.1:p.Arg195=
NM_001382634.1:c.585A>G NP_001369563.1:p.Arg195=
NM_001382635.1:c.585A>G NP_001369564.1:p.Arg195=
NM_001382636.1:c.354A>G NP_001369565.1:p.Arg118=