Canonical Allele Identifier: CA450910906
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74331623G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73621900G>T , CM000668.2:g.73621900G>T GRCh38
NC_000006.11:g.74331623G>T , CM000668.1:g.74331623G>T GRCh37
NC_000006.10:g.74388344G>T NCBI36
NG_008272.1:g.37115C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.882C>A MANE Select ENSP00000348019.5:p.Ile294=
ENST00000355773.5:c.882C>A ENSP00000348019.5:p.Ile294=
NM_012434.4:c.882C>A NP_036566.1:p.Ile294=
XM_005248710.2:c.831C>A XP_005248767.1:p.Ile277=
XM_005248711.1:c.684C>A XP_005248768.1:p.Ile228=
XM_011535750.1:c.882C>A XP_011534052.1:p.Ile294=
NM_012434.5:c.882C>A MANE Select NP_036566.1:p.Ile294=
NM_001382629.1:c.651C>A NP_001369558.1:p.Ile217=
NM_001382630.1:c.882C>A NP_001369559.1:p.Ile294=
NM_001382631.1:c.903C>A NP_001369560.1:p.Ile301=
NM_001382632.1:c.795C>A NP_001369561.1:p.Ile265=
NM_001382633.1:c.882C>A NP_001369562.1:p.Ile294=
NM_001382634.1:c.820-6453C>A NP_001369563.1:n.820-6453C>A
NM_001382635.1:c.879C>A NP_001369564.1:p.Ile293=
NM_001382636.1:c.564C>A NP_001369565.1:p.Ile188=