Canonical Allele Identifier: CA346209851
Gene: SNX17 HGNC NCBI

Linked Data

gnomAD v4: 2-27375152-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27375152A>T , CM000664.2:g.27375152A>T GRCh38
NC_000002.11:g.27598019A>T , CM000664.1:g.27598019A>T GRCh37
NC_000002.10:g.27451523A>T NCBI36
NG_009305.1:g.306T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233575.7:c.773A>T MANE Select ENSP00000233575.2:p.Glu258Val
ENST00000233575.6:c.773A>T ENSP00000233575.2:p.Glu258Val
ENST00000427123.5:c.*583A>T ENSP00000405399.1:n.*583A>T
ENST00000440760.5:c.*618A>T ENSP00000399727.1:n.*618A>T
ENST00000453453.1:c.*300A>T ENSP00000401922.1:n.*300A>T
ENST00000493711.1:n.490A>T
ENST00000494893.5:n.949A>T
ENST00000537606.5:c.698A>T ENSP00000439208.1:p.Glu233Val
NM_001267059.1:c.737A>T NP_001253988.1:p.Glu246Val
NM_001267060.1:c.698A>T NP_001253989.1:p.Glu233Val
NM_001267061.1:c.713A>T NP_001253990.1:p.Glu238Val
NM_014748.3:c.773A>T NP_055563.1:p.Glu258Val
NR_049782.1:n.1146A>T
NR_049783.1:n.1119A>T
NR_049784.1:n.1095A>T
NR_049785.1:n.1028A>T
NR_049786.1:n.977A>T
NR_049787.1:n.828A>T
NR_049788.1:n.758A>T
XM_011533203.1:c.131A>T XP_011531505.1:p.Glu44Val
XM_011533203.2:c.131A>T XP_011531505.1:p.Glu44Val
XM_017005405.2:c.131A>T XP_016860894.1:p.Glu44Val
NM_014748.4:c.773A>T MANE Select NP_055563.1:p.Glu258Val
NM_001267059.2:c.737A>T NP_001253988.1:p.Glu246Val
NM_001267061.2:c.713A>T NP_001253990.1:p.Glu238Val
NR_049782.2:n.1026A>T
NR_049783.2:n.999A>T
NR_049784.2:n.975A>T
NR_049785.2:n.908A>T
NR_049786.2:n.857A>T
NR_049787.2:n.708A>T
NR_049788.2:n.638A>T
NM_001267060.2:c.698A>T NP_001253989.1:p.Glu233Val