Canonical Allele Identifier: CA346209694
Gene: SNX17 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27375083G>T , CM000664.2:g.27375083G>T GRCh38
NC_000002.11:g.27597950G>T , CM000664.1:g.27597950G>T GRCh37
NC_000002.10:g.27451454G>T NCBI36
NG_009305.1:g.375C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233575.7:c.704G>T MANE Select ENSP00000233575.2:p.Gly235Val
ENST00000233575.6:c.704G>T ENSP00000233575.2:p.Gly235Val
ENST00000427123.5:c.*514G>T ENSP00000405399.1:n.*514G>T
ENST00000440760.5:c.*549G>T ENSP00000399727.1:n.*549G>T
ENST00000453453.1:c.*231G>T ENSP00000401922.1:n.*231G>T
ENST00000493711.1:n.421G>T
ENST00000494893.5:n.880G>T
ENST00000537606.5:c.629G>T ENSP00000439208.1:p.Gly210Val
NM_001267059.1:c.668G>T NP_001253988.1:p.Gly223Val
NM_001267060.1:c.629G>T NP_001253989.1:p.Gly210Val
NM_001267061.1:c.644G>T NP_001253990.1:p.Gly215Val
NM_014748.3:c.704G>T NP_055563.1:p.Gly235Val
NR_049782.1:n.1077G>T
NR_049783.1:n.1050G>T
NR_049784.1:n.1026G>T
NR_049785.1:n.959G>T
NR_049786.1:n.908G>T
NR_049787.1:n.759G>T
NR_049788.1:n.689G>T
XM_011533203.1:c.62G>T XP_011531505.1:p.Gly21Val
XM_011533203.2:c.62G>T XP_011531505.1:p.Gly21Val
XM_017005405.2:c.62G>T XP_016860894.1:p.Gly21Val
NM_014748.4:c.704G>T MANE Select NP_055563.1:p.Gly235Val
NM_001267059.2:c.668G>T NP_001253988.1:p.Gly223Val
NM_001267061.2:c.644G>T NP_001253990.1:p.Gly215Val
NR_049782.2:n.957G>T
NR_049783.2:n.930G>T
NR_049784.2:n.906G>T
NR_049785.2:n.839G>T
NR_049786.2:n.788G>T
NR_049787.2:n.639G>T
NR_049788.2:n.569G>T
NM_001267060.2:c.629G>T NP_001253989.1:p.Gly210Val