Canonical Allele Identifier: CA450912336
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74354145A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73644422A>T , CM000668.2:g.73644422A>T GRCh38
NC_000006.11:g.74354145A>T , CM000668.1:g.74354145A>T GRCh37
NC_000006.10:g.74410866A>T NCBI36
NG_008272.1:g.14593T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.276T>A MANE Select ENSP00000348019.5:p.Val92=
ENST00000355773.5:c.276T>A ENSP00000348019.5:p.Val92=
ENST00000481996.1:n.42T>A
NM_012434.4:c.276T>A NP_036566.1:p.Val92=
XM_005248710.2:c.225T>A XP_005248767.1:p.Val75=
XM_005248711.1:c.78T>A XP_005248768.1:p.Val26=
XM_011535750.1:c.276T>A XP_011534052.1:p.Val92=
XM_011535751.1:c.276T>A XP_011534053.1:p.Val92=
NM_012434.5:c.276T>A MANE Select NP_036566.1:p.Val92=
NM_001382629.1:c.61-2498T>A NP_001369558.1:n.61-2498T>A
NM_001382630.1:c.276T>A NP_001369559.1:p.Val92=
NM_001382631.1:c.297T>A NP_001369560.1:p.Val99=
NM_001382632.1:c.276T>A NP_001369561.1:p.Val92=
NM_001382633.1:c.276T>A NP_001369562.1:p.Val92=
NM_001382634.1:c.276T>A NP_001369563.1:p.Val92=
NM_001382635.1:c.276T>A NP_001369564.1:p.Val92=
NM_001382636.1:c.61-2498T>A NP_001369565.1:n.61-2498T>A