Canonical Allele Identifier: CA1028673275
Gene: SNX17 HGNC NCBI

Linked Data

dbSNP Id: rs1683085135
gnomAD v3: 2-27375379-C-T
gnomAD v4: 2-27375379-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27375379C>T , CM000664.2:g.27375379C>T GRCh38
NC_000002.11:g.27598246C>T , CM000664.1:g.27598246C>T GRCh37
NC_000002.10:g.27451750C>T NCBI36
NG_009305.1:g.79G>A
NG_028219.1:g.10366G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233575.7:c.775-127C>T MANE Select ENSP00000233575.2:n.775-127C>T
ENST00000233575.6:c.775-127C>T ENSP00000233575.2:n.775-127C>T
ENST00000427123.5:c.*585-127C>T ENSP00000405399.1:n.*585-127C>T
ENST00000440760.5:c.*620-127C>T ENSP00000399727.1:n.*620-127C>T
ENST00000453453.1:c.*302-127C>T ENSP00000401922.1:n.*302-127C>T
ENST00000493711.1:n.492-127C>T
ENST00000494893.5:n.951-127C>T
ENST00000537606.5:c.700-127C>T ENSP00000439208.1:n.700-127C>T
NM_001267059.1:c.739-127C>T NP_001253988.1:n.739-127C>T
NM_001267060.1:c.700-127C>T NP_001253989.1:n.700-127C>T
NM_001267061.1:c.715-127C>T NP_001253990.1:n.715-127C>T
NM_014748.3:c.775-127C>T NP_055563.1:n.775-127C>T
NR_049782.1:n.1148-127C>T
NR_049783.1:n.1121-127C>T
NR_049784.1:n.1097-127C>T
NR_049785.1:n.1030-127C>T
NR_049786.1:n.979-127C>T
NR_049787.1:n.830-127C>T
NR_049788.1:n.760-127C>T
XM_011533203.1:c.133-127C>T XP_011531505.1:n.133-127C>T
XM_011533203.2:c.133-127C>T XP_011531505.1:n.133-127C>T
XM_017005405.2:c.133-127C>T XP_016860894.1:n.133-127C>T
NM_014748.4:c.775-127C>T MANE Select NP_055563.1:n.775-127C>T
NM_001267059.2:c.739-127C>T NP_001253988.1:n.739-127C>T
NM_001267061.2:c.715-127C>T NP_001253990.1:n.715-127C>T
NR_049782.2:n.1028-127C>T
NR_049783.2:n.1001-127C>T
NR_049784.2:n.977-127C>T
NR_049785.2:n.910-127C>T
NR_049786.2:n.859-127C>T
NR_049787.2:n.710-127C>T
NR_049788.2:n.640-127C>T
NM_001267060.2:c.700-127C>T NP_001253989.1:n.700-127C>T