Canonical Allele Identifier: CA340548475

Gene: PATJ

Linked Data

• gnomAD v4: 1-61914634-G-C
• MyVariant Identifiers: chr1:g.62380306G>C (hg19) ; chr1:g.61914634G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.61914634G>C , CM000663.2:g.61914634G>C	GRCh38
NC_000001.10:g.62380306G>C , CM000663.1:g.62380306G>C	GRCh37
NC_000001.9:g.62152894G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000642238.2:c.3540G>C MANE Select	ENSP00000494277.1:p.Gln1180His
ENST00000316485.11:c.3491-3390G>C	ENSP00000326199.7:n.3491-3390G>C
ENST00000371158.6:c.3540G>C	ENSP00000360200.2:p.Gln1180His
ENST00000459752.5:n.3654G>C
ENST00000484562.5:n.3654G>C
ENST00000484937.5:c.1917G>C	ENSP00000433669.1:p.Gln639His
ENST00000494842.2:c.76G>C
ENST00000613764.4:c.3381+13175G>C	ENSP00000479041.1:n.3381+13175G>C
ENST00000635023.1:c.*1508G>C	ENSP00000489335.1:n.*1508G>C
ENST00000635214.1:n.3654G>C
NM_176877.2:c.3540G>C	NP_795352.2:p.Gln1180His
XM_005270341.2:c.3540G>C	XP_005270398.1:p.Gln1180His
XM_005270347.1:c.3540G>C	XP_005270404.1:p.Gln1180His
XM_006710278.2:c.3540G>C	XP_006710341.1:p.Gln1180His
XM_011540462.1:c.3540G>C	XP_011538764.1:p.Gln1180His
XM_011540463.1:c.3540G>C	XP_011538765.1:p.Gln1180His
XM_011540464.1:c.3540G>C	XP_011538766.1:p.Gln1180His
XM_011540465.1:c.3540G>C	XP_011538767.1:p.Gln1180His
XM_011540466.1:c.3540G>C	XP_011538768.1:p.Gln1180His
XM_011540467.1:c.3540G>C	XP_011538769.1:p.Gln1180His
XM_011540468.1:c.3540G>C	XP_011538770.1:p.Gln1180His
XM_011540469.1:c.3540G>C	XP_011538771.1:p.Gln1180His
NM_001350145.1:c.3540G>C	NP_001337074.1:p.Gln1180His
NM_176877.3:c.3540G>C	NP_795352.2:p.Gln1180His
XM_005270347.2:c.3540G>C	XP_005270404.1:p.Gln1180His
XM_006710278.4:c.3540G>C	XP_006710341.1:p.Gln1180His
XM_011540462.3:c.3540G>C	XP_011538764.1:p.Gln1180His
XM_011540463.2:c.3540G>C	XP_011538765.1:p.Gln1180His
XM_011540464.3:c.3540G>C	XP_011538766.1:p.Gln1180His
XM_011540465.3:c.3540G>C	XP_011538767.1:p.Gln1180His
XM_011540466.3:c.3540G>C	XP_011538768.1:p.Gln1180His
XM_011540467.3:c.3540G>C	XP_011538769.1:p.Gln1180His
XM_011540468.3:c.3540G>C	XP_011538770.1:p.Gln1180His
XM_011540469.3:c.3540G>C	XP_011538771.1:p.Gln1180His
XM_016999998.2:c.3540G>C	XP_016855487.1:p.Gln1180His
XM_016999999.2:c.3540G>C	XP_016855488.1:p.Gln1180His
XM_017000000.1:c.2631G>C	XP_016855489.1:p.Gln877His
XM_017000001.1:c.705G>C	XP_016855490.1:p.Gln235His
XM_024448614.1:c.3540G>C	XP_024304382.1:p.Gln1180His
XM_024448642.1:c.3540G>C	XP_024304410.1:p.Gln1180His
XR_001736900.2:n.3654G>C
XR_002957157.1:n.3654G>C
NM_001350145.3:c.3540G>C MANE Select	NP_001337074.2:p.Gln1180His
NM_176877.5:c.3540G>C	NP_795352.3:p.Gln1180His