Canonical Allele Identifier: CA450914556
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74320164G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73610441G>A , CM000668.2:g.73610441G>A GRCh38
NC_000006.11:g.74320164G>A , CM000668.1:g.74320164G>A GRCh37
NC_000006.10:g.74376885G>A NCBI36
NG_008272.1:g.48574C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.1218C>T MANE Select ENSP00000348019.5:p.Cys406=
ENST00000355773.5:c.1218C>T ENSP00000348019.5:p.Cys406=
NM_012434.4:c.1218C>T NP_036566.1:p.Cys406=
XM_005248710.2:c.1167C>T XP_005248767.1:p.Cys389=
XM_005248711.1:c.1020C>T XP_005248768.1:p.Cys340=
XM_011535750.1:c.1111+4874C>T XP_011534052.1:n.1111+4874C>T
NM_012434.5:c.1218C>T MANE Select NP_036566.1:p.Cys406=
NM_001382629.1:c.987C>T NP_001369558.1:p.Cys329=
NM_001382630.1:c.1218C>T NP_001369559.1:p.Cys406=
NM_001382631.1:c.1239C>T NP_001369560.1:p.Cys413=
NM_001382632.1:c.1131C>T NP_001369561.1:p.Cys377=
NM_001382633.1:c.1218C>T NP_001369562.1:p.Cys406=
NM_001382634.1:c.1059C>T NP_001369563.1:p.Cys353=
NM_001382635.1:c.1215C>T NP_001369564.1:p.Cys405=
NM_001382636.1:c.900C>T NP_001369565.1:p.Cys300=