Canonical Allele Identifier: CA364720000
Gene: SLC17A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600389T>A , CM000668.2:g.73600389T>A GRCh38
NC_000006.11:g.74310112T>A , CM000668.1:g.74310112T>A GRCh37
NC_000006.10:g.74366833T>A NCBI36
NG_008272.1:g.58626A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1312A>T MANE Select ENSP00000348019.5:p.Met438Leu
ENST00000355773.5:c.1312A>T ENSP00000348019.5:p.Met438Leu
NM_012434.4:c.1312A>T NP_036566.1:p.Met438Leu
XM_005248710.2:c.1261A>T XP_005248767.1:p.Met421Leu
XM_005248711.1:c.1114A>T XP_005248768.1:p.Met372Leu
XM_011535750.1:c.1164A>T XP_011534052.1:p.Glu388Asp
NM_012434.5:c.1312A>T MANE Select NP_036566.1:p.Met438Leu
NM_001382629.1:c.1081A>T NP_001369558.1:p.Met361Leu
NM_001382630.1:c.1260-5175A>T NP_001369559.1:n.1260-5175A>T
NM_001382631.1:c.1333A>T NP_001369560.1:p.Met445Leu
NM_001382632.1:c.1225A>T NP_001369561.1:p.Met409Leu
NM_001382633.1:c.1312A>T NP_001369562.1:p.Met438Leu
NM_001382634.1:c.1153A>T NP_001369563.1:p.Met385Leu
NM_001382635.1:c.1309A>T NP_001369564.1:p.Met437Leu
NM_001382636.1:c.994A>T NP_001369565.1:p.Met332Leu