Canonical Allele Identifier: CA882652
Gene: PATJ HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1056513

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.61914626G>A , CM000663.2:g.61914626G>A GRCh38
NC_000001.10:g.62380298G>A , CM000663.1:g.62380298G>A GRCh37
NC_000001.9:g.62152886G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_176877.2:c.3532G>A VV NP_795352.2:p.Gly1178Ser
XM_005270341.2:c.3532G>A XP_005270398.1:p.Gly1178Ser
XM_005270347.1:c.3532G>A XP_005270404.1:p.Gly1178Ser
XM_006710278.2:c.3532G>A XP_006710341.1:p.Gly1178Ser
XM_011540462.1:c.3532G>A XP_011538764.1:p.Gly1178Ser
XM_011540463.1:c.3532G>A XP_011538765.1:p.Gly1178Ser
XM_011540464.1:c.3532G>A XP_011538766.1:p.Gly1178Ser
XM_011540465.1:c.3532G>A XP_011538767.1:p.Gly1178Ser
XM_011540466.1:c.3532G>A XP_011538768.1:p.Gly1178Ser
XM_011540467.1:c.3532G>A XP_011538769.1:p.Gly1178Ser
XM_011540468.1:c.3532G>A XP_011538770.1:p.Gly1178Ser
XM_011540469.1:c.3532G>A XP_011538771.1:p.Gly1178Ser
NM_001350145.1:c.3532G>A VV NP_001337074.1:p.Gly1178Ser
NM_176877.3:c.3532G>A VV NP_795352.2:p.Gly1178Ser
XM_005270347.2:c.3532G>A XP_005270404.1:p.Gly1178Ser
XM_006710278.4:c.3532G>A XP_006710341.1:p.Gly1178Ser
XM_011540462.3:c.3532G>A XP_011538764.1:p.Gly1178Ser
XM_011540463.2:c.3532G>A XP_011538765.1:p.Gly1178Ser
XM_011540464.3:c.3532G>A XP_011538766.1:p.Gly1178Ser
XM_011540465.3:c.3532G>A XP_011538767.1:p.Gly1178Ser
XM_011540466.3:c.3532G>A XP_011538768.1:p.Gly1178Ser
XM_011540467.3:c.3532G>A XP_011538769.1:p.Gly1178Ser
XM_011540468.3:c.3532G>A XP_011538770.1:p.Gly1178Ser
XM_011540469.3:c.3532G>A XP_011538771.1:p.Gly1178Ser
XM_016999998.2:c.3532G>A XP_016855487.1:p.Gly1178Ser
XM_016999999.2:c.3532G>A XP_016855488.1:p.Gly1178Ser
XM_017000000.1:c.2623G>A XP_016855489.1:p.Gly875Ser
XM_017000001.1:c.697G>A XP_016855490.1:p.Gly233Ser
XM_024448614.1:c.3532G>A XP_024304382.1:p.Gly1178Ser
XM_024448642.1:c.3532G>A XP_024304410.1:p.Gly1178Ser
XR_001736900.2:n.3646G>A
XR_002957157.1:n.3646G>A
ENST00000316485.11:c.3491-3398G>A ENSP00000326199.7:p.=
ENST00000371158.6:c.3532G>A ENSP00000360200.2:p.Gly1178Ser
ENST00000459752.5:n.3646G>A
ENST00000484562.5:n.3646G>A
ENST00000484937.5:c.1909G>A ENSP00000433669.1:p.Gly637Ser
ENST00000494842.2:n.68G>A
ENST00000613764.4:c.3381+13167G>A ENSP00000479041.1:p.=
ENST00000635023.1:c.*1500G>A ENSP00000489335.1:p.=
ENST00000635214.1:n.3646G>A