Canonical Allele Identifier: CA30511712
Community Standard Title: NM_001330723.2(SNX27):c.336G>A (p.Ala112=)
Gene: SNX27 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151638912G>A , CM000663.2:g.151638912G>A GRCh38
NC_000001.10:g.151611388G>A , CM000663.1:g.151611388G>A GRCh37
NC_000001.9:g.149878012G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001330723.2:c.336G>A MANE Select NP_001317652.1:p.Ala112=
ENST00000458013.7:c.336G>A MANE Select ENSP00000400333.2:p.Ala112=
NM_001330723.1:c.336G>A NP_001317652.1:p.Ala112=
NM_030918.5:c.336G>A NP_112180.4:p.Ala112=
NM_030918.6:c.336G>A NP_112180.4:p.Ala112=
ENST00000368838.1:c.57G>A ENSP00000357831.1:p.Ala19=
ENST00000368841.6:c.*7G>A ENSP00000357834.2:n.*7G>A
ENST00000368841.7:c.*7G>A ENSP00000357834.2:n.*7G>A
ENST00000368843.7:c.336G>A ENSP00000357836.3:p.Ala112=
ENST00000368843.8:c.336G>A ENSP00000357836.3:p.Ala112=
ENST00000458013.6:c.336G>A ENSP00000400333.2:p.Ala112=
ENST00000642349.1:c.70G>A ENSP00000494331.1:n.70G>A
ENST00000642376.1:c.181-19323G>A ENSP00000496645.1:n.181-19323G>A
ENST00000642479.1:c.312-19323G>A ENSP00000496775.1:n.312-19323G>A
ENST00000642582.1:n.52G>A
ENST00000643179.1:n.144G>A
ENST00000643814.1:n.57G>A
ENST00000644113.1:n.20G>A
ENST00000644970.1:n.542-19323G>A
ENST00000647328.1:n.57G>A
XM_005245509.1:c.336G>A XP_005245566.1:p.Ala112=
XM_005245510.2:c.27G>A XP_005245567.1:p.Ala9=
XM_005245510.3:c.27G>A XP_005245567.1:p.Ala9=
XM_005245511.3:c.-223G>A XP_005245568.1:n.-223G>A
XM_005245511.4:c.-223G>A XP_005245568.1:n.-223G>A
XM_011510024.1:c.241-19323G>A XP_011508326.1:n.241-19323G>A
XM_011510024.2:c.241-19323G>A XP_011508326.1:n.241-19323G>A
XM_011510025.1:c.181-19323G>A XP_011508327.1:n.181-19323G>A
XM_011510025.2:c.181-19323G>A XP_011508327.1:n.181-19323G>A
XM_011510026.1:c.336G>A XP_011508328.1:p.Ala112=
XM_011510026.2:c.336G>A XP_011508328.1:p.Ala112=
XM_017002417.1:c.181-19323G>A XP_016857906.1:n.181-19323G>A
XM_024450038.1:c.-15-19323G>A XP_024305806.1:n.-15-19323G>A
XM_024450039.1:c.-15-19323G>A XP_024305807.1:n.-15-19323G>A