Canonical Allele Identifier: CA425606861

Gene: SNX17

Linked Data

• dbSNP Id: rs1683109897
• gnomAD v3: 2-27375535-C-T
• gnomAD v4: 2-27375535-C-T
• MyVariant Identifiers: chr2:g.27598402C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375535C>T , CM000664.2:g.27375535C>T	GRCh38
NC_000002.11:g.27598402C>T , CM000664.1:g.27598402C>T	GRCh37
NC_000002.10:g.27451906C>T	NCBI36
NG_028219.1:g.10210G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.804C>T MANE Select	ENSP00000233575.2:p.His268=
ENST00000233575.6:c.804C>T	ENSP00000233575.2:p.His268=
ENST00000427123.5:c.*614C>T	ENSP00000405399.1:n.*614C>T
ENST00000440760.5:c.*649C>T	ENSP00000399727.1:n.*649C>T
ENST00000453453.1:c.*331C>T	ENSP00000401922.1:n.*331C>T
ENST00000493711.1:n.521C>T
ENST00000537606.5:c.729C>T	ENSP00000439208.1:p.His243=
NM_001267059.1:c.768C>T	NP_001253988.1:p.His256=
NM_001267060.1:c.729C>T	NP_001253989.1:p.His243=
NM_001267061.1:c.744C>T	NP_001253990.1:p.His248=
NM_014748.3:c.804C>T	NP_055563.1:p.His268=
NR_049782.1:n.1177C>T
NR_049783.1:n.1150C>T
NR_049784.1:n.1126C>T
NR_049785.1:n.1059C>T
NR_049786.1:n.1008C>T
NR_049787.1:n.859C>T
NR_049788.1:n.789C>T
XM_011533203.1:c.162C>T	XP_011531505.1:p.His54=
XM_011533203.2:c.162C>T	XP_011531505.1:p.His54=
XM_017005405.2:c.162C>T	XP_016860894.1:p.His54=
NM_014748.4:c.804C>T MANE Select	NP_055563.1:p.His268=
NM_001267059.2:c.768C>T	NP_001253988.1:p.His256=
NM_001267061.2:c.744C>T	NP_001253990.1:p.His248=
NR_049782.2:n.1057C>T
NR_049783.2:n.1030C>T
NR_049784.2:n.1006C>T
NR_049785.2:n.939C>T
NR_049786.2:n.888C>T
NR_049787.2:n.739C>T
NR_049788.2:n.669C>T
NM_001267060.2:c.729C>T	NP_001253989.1:p.His243=