Canonical Allele Identifier: CA450912655
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74310125G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600402G>A , CM000668.2:g.73600402G>A GRCh38
NC_000006.11:g.74310125G>A , CM000668.1:g.74310125G>A GRCh37
NC_000006.10:g.74366846G>A NCBI36
NG_008272.1:g.58613C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1299C>T MANE Select ENSP00000348019.5:p.Ala433=
ENST00000355773.5:c.1299C>T ENSP00000348019.5:p.Ala433=
NM_012434.4:c.1299C>T NP_036566.1:p.Ala433=
XM_005248710.2:c.1248C>T XP_005248767.1:p.Ala416=
XM_005248711.1:c.1101C>T XP_005248768.1:p.Ala367=
XM_011535750.1:c.1151C>T XP_011534052.1:p.Pro384Leu
NM_012434.5:c.1299C>T MANE Select NP_036566.1:p.Ala433=
NM_001382629.1:c.1068C>T NP_001369558.1:p.Ala356=
NM_001382630.1:c.1260-5188C>T NP_001369559.1:n.1260-5188C>T
NM_001382631.1:c.1320C>T NP_001369560.1:p.Ala440=
NM_001382632.1:c.1212C>T NP_001369561.1:p.Ala404=
NM_001382633.1:c.1299C>T NP_001369562.1:p.Ala433=
NM_001382634.1:c.1140C>T NP_001369563.1:p.Ala380=
NM_001382635.1:c.1296C>T NP_001369564.1:p.Ala432=
NM_001382636.1:c.981C>T NP_001369565.1:p.Ala327=