Canonical Allele Identifier: CA450912176
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74351546G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73641823G>A , CM000668.2:g.73641823G>A GRCh38
NC_000006.11:g.74351546G>A , CM000668.1:g.74351546G>A GRCh37
NC_000006.10:g.74408267G>A NCBI36
NG_008272.1:g.17192C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.393C>T MANE Select ENSP00000348019.5:p.Ser131=
ENST00000355773.5:c.393C>T ENSP00000348019.5:p.Ser131=
ENST00000481996.1:n.159C>T
NM_012434.4:c.393C>T NP_036566.1:p.Ser131=
XM_005248710.2:c.342C>T XP_005248767.1:p.Ser114=
XM_005248711.1:c.195C>T XP_005248768.1:p.Ser65=
XM_011535750.1:c.393C>T XP_011534052.1:p.Ser131=
XM_011535751.1:c.393C>T XP_011534053.1:p.Ser131=
NM_012434.5:c.393C>T MANE Select NP_036566.1:p.Ser131=
NM_001382629.1:c.162C>T NP_001369558.1:p.Ser54=
NM_001382630.1:c.393C>T NP_001369559.1:p.Ser131=
NM_001382631.1:c.414C>T NP_001369560.1:p.Ser138=
NM_001382632.1:c.393C>T NP_001369561.1:p.Ser131=
NM_001382633.1:c.393C>T NP_001369562.1:p.Ser131=
NM_001382634.1:c.393C>T NP_001369563.1:p.Ser131=
NM_001382635.1:c.393C>T NP_001369564.1:p.Ser131=
NM_001382636.1:c.162C>T NP_001369565.1:p.Ser54=