Canonical Allele Identifier: CA450910896
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74331611G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73621888G>A , CM000668.2:g.73621888G>A GRCh38
NC_000006.11:g.74331611G>A , CM000668.1:g.74331611G>A GRCh37
NC_000006.10:g.74388332G>A NCBI36
NG_008272.1:g.37127C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.894C>T MANE Select ENSP00000348019.5:p.His298=
ENST00000355773.5:c.894C>T ENSP00000348019.5:p.His298=
NM_012434.4:c.894C>T NP_036566.1:p.His298=
XM_005248710.2:c.843C>T XP_005248767.1:p.His281=
XM_005248711.1:c.696C>T XP_005248768.1:p.His232=
XM_011535750.1:c.894C>T XP_011534052.1:p.His298=
NM_012434.5:c.894C>T MANE Select NP_036566.1:p.His298=
NM_001382629.1:c.663C>T NP_001369558.1:p.His221=
NM_001382630.1:c.894C>T NP_001369559.1:p.His298=
NM_001382631.1:c.915C>T NP_001369560.1:p.His305=
NM_001382632.1:c.807C>T NP_001369561.1:p.His269=
NM_001382633.1:c.894C>T NP_001369562.1:p.His298=
NM_001382634.1:c.820-6441C>T NP_001369563.1:n.820-6441C>T
NM_001382635.1:c.891C>T NP_001369564.1:p.His297=
NM_001382636.1:c.576C>T NP_001369565.1:p.His192=