Canonical Allele Identifier: CA450912427
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74354292T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73644569T>A , CM000668.2:g.73644569T>A GRCh38
NC_000006.11:g.74354292T>A , CM000668.1:g.74354292T>A GRCh37
NC_000006.10:g.74411013T>A NCBI36
NG_008272.1:g.14446A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.129A>T MANE Select ENSP00000348019.5:p.Ala43=
ENST00000355773.5:c.129A>T ENSP00000348019.5:p.Ala43=
NM_012434.4:c.129A>T NP_036566.1:p.Ala43=
XM_005248710.2:c.78A>T XP_005248767.1:p.Ala26=
XM_005248711.1:c.-70A>T XP_005248768.1:n.-70A>T
XM_011535750.1:c.129A>T XP_011534052.1:p.Ala43=
XM_011535751.1:c.129A>T XP_011534053.1:p.Ala43=
NM_012434.5:c.129A>T MANE Select NP_036566.1:p.Ala43=
NM_001382629.1:c.61-2645A>T NP_001369558.1:n.61-2645A>T
NM_001382630.1:c.129A>T NP_001369559.1:p.Ala43=
NM_001382631.1:c.150A>T NP_001369560.1:p.Ala50=
NM_001382632.1:c.129A>T NP_001369561.1:p.Ala43=
NM_001382633.1:c.129A>T NP_001369562.1:p.Ala43=
NM_001382634.1:c.129A>T NP_001369563.1:p.Ala43=
NM_001382635.1:c.129A>T NP_001369564.1:p.Ala43=
NM_001382636.1:c.61-2645A>T NP_001369565.1:n.61-2645A>T