Canonical Allele Identifier: CA2658341504
Gene: SNX17 HGNC NCBI

Linked Data

gnomAD v4: 2-27375276-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27375276C>G , CM000664.2:g.27375276C>G GRCh38
NC_000002.11:g.27598143C>G , CM000664.1:g.27598143C>G GRCh37
NC_000002.10:g.27451647C>G NCBI36
NG_009305.1:g.182G>C
NG_028219.1:g.10469G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233575.7:c.774+123C>G MANE Select ENSP00000233575.2:n.774+123C>G
ENST00000233575.6:c.774+123C>G ENSP00000233575.2:n.774+123C>G
ENST00000427123.5:c.*584+123C>G ENSP00000405399.1:n.*584+123C>G
ENST00000440760.5:c.*619+123C>G ENSP00000399727.1:n.*619+123C>G
ENST00000453453.1:c.*301+123C>G ENSP00000401922.1:n.*301+123C>G
ENST00000493711.1:n.491+123C>G
ENST00000494893.5:n.950+123C>G
ENST00000537606.5:c.699+123C>G ENSP00000439208.1:n.699+123C>G
NM_001267059.1:c.738+123C>G NP_001253988.1:n.738+123C>G
NM_001267060.1:c.699+123C>G NP_001253989.1:n.699+123C>G
NM_001267061.1:c.714+123C>G NP_001253990.1:n.714+123C>G
NM_014748.3:c.774+123C>G NP_055563.1:n.774+123C>G
NR_049782.1:n.1147+123C>G
NR_049783.1:n.1120+123C>G
NR_049784.1:n.1096+123C>G
NR_049785.1:n.1029+123C>G
NR_049786.1:n.978+123C>G
NR_049787.1:n.829+123C>G
NR_049788.1:n.759+123C>G
XM_011533203.1:c.132+123C>G XP_011531505.1:n.132+123C>G
XM_011533203.2:c.132+123C>G XP_011531505.1:n.132+123C>G
XM_017005405.2:c.132+123C>G XP_016860894.1:n.132+123C>G
NM_014748.4:c.774+123C>G MANE Select NP_055563.1:n.774+123C>G
NM_001267059.2:c.738+123C>G NP_001253988.1:n.738+123C>G
NM_001267061.2:c.714+123C>G NP_001253990.1:n.714+123C>G
NR_049782.2:n.1027+123C>G
NR_049783.2:n.1000+123C>G
NR_049784.2:n.976+123C>G
NR_049785.2:n.909+123C>G
NR_049786.2:n.858+123C>G
NR_049787.2:n.709+123C>G
NR_049788.2:n.639+123C>G
NM_001267060.2:c.699+123C>G NP_001253989.1:n.699+123C>G