Canonical Allele Identifier: CA3265056

Gene: SNX18

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.54519705G>A , CM000667.2:g.54519705G>A	GRCh38
NC_000005.9:g.53815535G>A , CM000667.1:g.53815535G>A	GRCh37
NC_000005.8:g.53851292G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001102575.2:c.1621+132G>A MANE Select	NP_001096045.1:n.1621+132G>A
ENST00000381410.5:c.1621+132G>A MANE Select	ENSP00000370817.4:n.1621+132G>A
NM_001102575.1:c.1621+132G>A	NP_001096045.1:n.1621+132G>A
NM_001145427.1:c.1753G>A	NP_001138899.1:p.Ala585Thr
NM_001145427.2:c.1753G>A	NP_001138899.1:p.Ala585Thr
NM_052870.2:c.1753G>A	NP_443102.2:p.Ala585Thr
NM_052870.3:c.1753G>A	NP_443102.2:p.Ala585Thr
NM_052870.4:c.1753G>A	NP_443102.2:p.Ala585Thr
ENST00000326277.4:c.1753G>A	ENSP00000317332.3:p.Ala585Thr
ENST00000326277.5:c.1753G>A	ENSP00000317332.4:p.Ala585Thr
ENST00000343017.10:c.1753G>A	ENSP00000342276.6:p.Ala585Thr
ENST00000343017.11:c.1753G>A	ENSP00000342276.7:p.Ala585Thr
ENST00000381410.4:c.1621+132G>A	ENSP00000370817.4:n.1621+132G>A
XM_017008997.1:c.1621+132G>A	XP_016864486.1:n.1621+132G>A
XR_001741987.1:n.1815+132G>A