Canonical Allele Identifier: CA346210048

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375533-C-T
• MyVariant Identifiers: chr2:g.27598400C>T (hg19) ; chr2:g.27375533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375533C>T , CM000664.2:g.27375533C>T	GRCh38
NC_000002.11:g.27598400C>T , CM000664.1:g.27598400C>T	GRCh37
NC_000002.10:g.27451904C>T	NCBI36
NG_028219.1:g.10212G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.802C>T MANE Select	ENSP00000233575.2:p.His268Tyr
ENST00000233575.6:c.802C>T	ENSP00000233575.2:p.His268Tyr
ENST00000427123.5:c.*612C>T	ENSP00000405399.1:n.*612C>T
ENST00000440760.5:c.*647C>T	ENSP00000399727.1:n.*647C>T
ENST00000453453.1:c.*329C>T	ENSP00000401922.1:n.*329C>T
ENST00000493711.1:n.519C>T
ENST00000537606.5:c.727C>T	ENSP00000439208.1:p.His243Tyr
NM_001267059.1:c.766C>T	NP_001253988.1:p.His256Tyr
NM_001267060.1:c.727C>T	NP_001253989.1:p.His243Tyr
NM_001267061.1:c.742C>T	NP_001253990.1:p.His248Tyr
NM_014748.3:c.802C>T	NP_055563.1:p.His268Tyr
NR_049782.1:n.1175C>T
NR_049783.1:n.1148C>T
NR_049784.1:n.1124C>T
NR_049785.1:n.1057C>T
NR_049786.1:n.1006C>T
NR_049787.1:n.857C>T
NR_049788.1:n.787C>T
XM_011533203.1:c.160C>T	XP_011531505.1:p.His54Tyr
XM_011533203.2:c.160C>T	XP_011531505.1:p.His54Tyr
XM_017005405.2:c.160C>T	XP_016860894.1:p.His54Tyr
NM_014748.4:c.802C>T MANE Select	NP_055563.1:p.His268Tyr
NM_001267059.2:c.766C>T	NP_001253988.1:p.His256Tyr
NM_001267061.2:c.742C>T	NP_001253990.1:p.His248Tyr
NR_049782.2:n.1055C>T
NR_049783.2:n.1028C>T
NR_049784.2:n.1004C>T
NR_049785.2:n.937C>T
NR_049786.2:n.886C>T
NR_049787.2:n.737C>T
NR_049788.2:n.667C>T
NM_001267060.2:c.727C>T	NP_001253989.1:p.His243Tyr